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MBN CLINICAL LABORATORIES
INTRODUCTION TO TESTING SERVICES
A. MICROBIOLGY (INFECTIOUS DISEASES) DIAGNOSTICS
Infectious diseases diagnostics involve the detection of disease-causing microorganisms in patient
samples and/or testing of these organisms to a profile of drugs to determine the exact antibiotics the
organism responds to.
What are infectious diseases?
Infectious diseases are diseases caused by Microorganisms or their products such as toxins.
Infectious diseases are the number one cause of the disease burden in Africa, and are responsible for
most of the illness and death on the continent. Infectious diseases may be caused by bacteria,
viruses, parasites or fungi. In table 1, examples of infectious diseases and the organisms causing
them are given.
Table 1. Examples of infectious diseases and their causative organisms
Parasites
Fungi
Viruses
Bacteria
Organism
group
Infectious Disease
Example of causative organisms
Pneumonia
Urinary tract infections (UTI)
Skin ulcers in children
Otitis media
Tuberculosis (TB)
Typhoid
Syphilis
Brucellosis
Dysentery (bloody diarrhoea)
Meningitis
Peptic ulcers
Pyomyositis
Osteomyelitis
Gonorrhea
Blood stream infection
AIDS
Painful ulcers in genital/private parts
Genital warts
Skin infections
Naso-pharyngitis (Sore throat/flu) and pneumonia
Dermatophytosis (Nails/hair/Skin fungal
infections) in children and adults
Vaginal candidiasis
Blood stream fungal infections
Meningitis
Disseminated organ fungal infections
Malaria
Intestinal hookworm disease
Intestinal tape worm disease
Trypanosomiasis
Filariasis (River blindness or Elephantiasis)
Schistosomiasis
Persistent Diarrhoea
Streptococcus pneumoniae
Escherichia coli, klebsiella pneumonae
Streptococcus pyogenes
Staphylococcus aureus, haemophillus influenzae
Mycobacterium tuberculosis
Salmonella Typhi or Paratyphi
Treponema pallidum
Brucella mellintensis or B. Abortus
Shigella dysenterae
Streptococcus neumonia, Nesseria meningitidis
Helicobacter pyroli
Staphylococcus aureus
Staphylococcus aureus
Nesseria gonorrhae
Staphylococcus aureus, salmonella spp
HIV
Herpes simplex virus (HSV)
Molluscum contagiosum
Molluscum contagiosum
Influenza, Measles, Respiratory syncytial virus, etc
Many species of fungi cause these
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Candida albicans
Candida albicans
Cryptococcus neorfomans
Several Dimorphic fungi
Plasmodium falciparum or other species
Hook worms
Taenia saginata, or T solium
Trypanosoma gambience
Oncocerca volvulus
Schistosoma haematobium, S. Mansoni
Cryptosprodium parvunm or other species
Due to the worldwide growing problem of drug resistance, it is very critical for any clinician to know
exactly the organism in the patient sample, and also its drug susceptibility profile. MBN Clinical
Laboratories offers, seamlessly and professionally, culture and sensitivity testing services, and also
performs molecular/DNA-based tests to help you determine the causative agents and their
susceptibility to antibiotics. From human samples, we detect bacteria, fungi, viruses, and parasites,
using culture techniques, immunodiagnostics, molecular diagnostics, staining and microscopy
techniques, fluorescent microscopy, etc.
We also perform drug susceptibility testing (DST) using the most appropriate techniques depending
on the isolated organism. Commonly used techniques include:
1. Disc Diffusion susceptibility
testing
2. Etest susceptibility testing
(allows MIC determination)
3. Molecular/DNA
Susceptibility methods
MIC = Minimum Inhibitory concetration
Very Rapid approach
Figure 3. Susceptibility testing techniques at MBN Clinical Laboratories
Other susceptibility methods: Microdilution/Macrodilution susceptibility testing, and Resistance
screens e.g for MRSA, ESBLs, VRE, etc.
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Table 2. Summary of Microbiology Tests:
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Sample & Tests
Ascites/Pleural/Joint/Pericardial/Hydro
cele Fluids (10-20 mls in sterile tube)
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Sample & Tests
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High Vaginal /Cervical Swab
Cell counts, Gram, ZN, Protein, Sugar, LDH
Wet prep for TV, & Gram stain for clue cells
Culture & Sensitivity
Culture & Sensitivity (Grp B strep or Neisseria)
Biopsy tissue (in N/S & in 10% Formalin),
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Indicate site _________________________
Gram and ZN stain
ZN for AFBs
KOH + Calcoflour (fungal hyphae)
Culture for Helicobacter pylori or Mycobacteria
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Culture & Sensitivity
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Gram, ZN and auramine stain
Pap Smear to screen for cancer of the Cervix
Culture & Sensitivity (bacteria / fungi)
Blood
Mycobacterial Culture & Sensitivity
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B/S Malaria/Trypanosoma/Filaria/Leishman)
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(in amies transport medium)
Direct Agglutination test (Group A β--haem strept)
Widal test - Typhoid Screen with titers
Direct Fluorescent antigen test (7 respiratory viruses)
VDRL/RPR &/or TPHA with titers
Culture & Sensitivity (Group A β-haem strept)
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HBsAg and HBeAg
Rheumatoid factor with titers
Semen
Skin/Hair/ Nail Scrapping (in sterile petri dish)
KOH+ Calcoflour white stain (fungal hyphae/ yeasts)
Culture & Sensitivity for fungal diagnosis
Bone marrow (1-2ml in sterile tube)
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Sputum – expector/induced (≥3ml, sterile tube)
Bone marrow Smear/film
Culture & Sensitivity (bacteria / fungi)
Gram, ZN and Auramine stain
Giemsa stain (Pneumocyctis jirovecii/PCP)
Breast milk (5-10ml in sterile tube)
Fluorescent staining (Pneumocyctis jirovecii/PCP)
Gram, ZN stain, Culture & Sensitivity
Culture & Sensitivity (bacteria / fungi)
BAL/Endotrachael fluid (3-5 mls in sterile tube)
Mycobacterial Culture & Sensitivity
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Gram, ZN and Auramine stain
Stool 3-5g or mls in sterile dry tube;
Giemsa stain (Pneumocyctis jirovecii/PCP)
Fluorescent staining (Pneumocyctis jirovecii/PCP)
(For O&P, put in 10ml of 10% Formalin)
PMN Cells, Modified ZN (protozoa eg Cryptosporidium oocysts)
Trichrome stain (gold standard in stool O&P)
Culture & Sensitivity (bacteria / fungi)
ELISA: Rota virus/Giardia/Cryptosporidium/C. deficille toxin
Mycobacterial Culture & Sensitivity
Culture & Sensitivity (Salmon/Shigella/C.jejuni/Yersinia/E.coli)
Catheter Tip (2-3cm tip, cut into 1ml sterile N/S)
Reducing sugars in stool
Sudan III test for stool fat
Culture & Sensitivity (bacteria / fungi)
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medium. Body site:____________________________________
Gram & ZN stain, Culture & Sensitivity (bacteria / fungi)
Volume, PH, Spermatozoa motility, Morphology, Count
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Blood culture & Sensitivity – Manual monitoring
Blood culture & Sensitivity - Automated monitoring
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Pus: 2-3ml in sterile tube or pus swab in amies transport
Anaerobic Culture & Sensitivity (only for pus in tube)
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CD4, CD3, CD8 cell Counts & ratios
CRP (C-reactive Protein) with titers
ASO (Antistreptolysin O antibody) with titers
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Nasopharyngeal/Oropharyngeal swab
Brucella agglutination test with titers
CRAG (Cryptococcal antigen) test
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Nasal swab (in amies transport medium)
Culture & Sensitivity to r/o MRSA
Malaria antigen test (P. falc & P.ovale )
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Lymph node Aspirate (3-5 mls in sterile tube)
Histopathology test
HIV Serology - Serial Algorithm
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Gastric Aspirate/biopsy (3-5 mls or g in sterile tube)
CSF
(1-3ml in sterile tube, 1ml in Fluoride bottle for Sugar)
Cell counts - T & D, India ink, Gram & ZN stain, Sugar, Protein
Culture & Sensitivity (bacteria / Yeasts eg Cryptococcus)
RPR/ VDRL and TPHA with titers
CRAG (Cryptococcal antigen) test
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Urethral/Rectal Swab (Modified Thayer-Martin medium)
Gram, ZN stain, Culture & Sensitivity
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Corneal Scraping (In Sterile tube/petridish)
Gram, ZN, KOH+Calcoflour white stain
Culture for ameoba
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Urine (5 -10mls in sterile tube)
Microscopy (WBCs, RBCs, epithelial cells, casts, eggs)
Chemistry (Sugar, Protein, Ketones, Bilirubin, pH, etc)
Gram & ZN stain on sediment
Culture & Sensitivity
Urine hCG (Pregnancy screen)
B. PCR/MOLECULAR/DNA DIAGNOSTIC TESTS
Introduction
PCR (Polymerase Chain Reaction) is a Nobel-prize winning technology and it is recognized as one
of the most important scientific discoveries of our generation. PCR was invented in1983 by a
Chemist named Kary Mullis, who was later awarded a Nobel Prize in 1993 for this landmark
invention.
PCR allows scientists to amplify a few of DNA/RNA segments into
billions of copies. This makes it possible to take a specimen
containing a few pathogens such as bacteria or viruses, amplify their
DNA/RNA sequences of interest, and within hours, generate
adequate copies that can then be detected to confirm presence or
absence of the targeted pathogen or genetic segment.
Not so long ago PCR was perceived to be very expensive
technology. In recent years, PCR has become one of the most costeffective strategies for the diagnosis of infectious and non-infectious
diseases. This has remarkably improved all aspects of humanity be it
diagnostics, medicine, drugs, food or water industry.
Another previously challenging perception about PCR tests was that it was liable to false positive
results due to its high sensitivity. Yes, if poorly performed this can happen, and the perception was
true to some extent. However, it is no longer an issue in well organized molecular laboratories with
the three separate rooms and with unidirectional work flow. This unidirectional workflow reduces to
virtually zero, the chances of amplicon contamination and thus false results.
At MBN Clinical Laboratories, we have dedicated three (3) independent laboratory rooms for our
PCR-based tests, i.e.
1. Pre-amplification/reagent room with a UV DNA/RNA cleaner
2. DNA extraction and amplification room
3. Post-amplification/Detection room
Each room is equipped with its own equipment and supplies including pipettes, laboratory coats,
gloves, tubes, etc, that are exclusively used only in that room. And we strictly operate in a
unidirectional work flow moving from room 1 to 3. In addition we employ both negative and
positive quality control samples to cross-check that the processes at each stage are perfectly
performed.
Additionally, the staffs that perform the PCR tests are highly qualified and specifically trained and
experienced in the field of molecular diagnostics. Our staffs have been trained to be very honest
when it comes to reporting a final result. Lastly, the reagents, kits and equipment we use are
procured from internationally accredited manufacturers to ensure that the best quality results are
obtained. With these scientific quality approaches, we guarantee that the PCR results we report
represent the truth in the tested sample. Here below we briefly review the Medical principles
underlying ou PCR tests to guide you through the best tests to request
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PCR Tests for Diagnosis of Infectious Pathogens
PCR test for HIV Diagnosis (HIV DNA Qualitative PCR)
Clinical Uses
This test is used for early diagnosis of HIV infection in infants/children aged less than 18 months or
in adults who wish to reduce the time of uncertainty.
Clinical Background
According to the WHO, infants who acquire HIV around the time of delivery undergo very rapid
disease progression in the first few months of life, often leading to death. This makes it essential to
perform early HIV diagnosis and initiation of ARVs. However, in infants/children less than 18
months, the standard HIV rapid serological tests, enzyme-linked immunosorbent assay (ELISA) and
Western blot immunoassay are not useful for HIV diagnosis. This is due to the confounding
presence in infants' blood of transplacentally acquired maternal antibodies, which may result in false
positive results. Therefore PCR tests, which detect the viral DNA integrated in the genome of
infected lymphocytes, offer an accurate means of HIV diagnosis in infants.
For adults, it may take up to three to four months after HIV-infection until antibodies against the
HIV virus have been generated and detected by the widely available rapid serological tests. PCRbased tests can detect even tiny amounts of HIV, making it possible to diagnose HIV infection 2-3
weeks after exposure and long before any antibodies appear. This can give HIV-positive people and
their doctors a critical time advantage in fighting the virus.
The HIV PCR test offered at MBN Clinical Lab allows you to make an early and accurate diagnosis
of HIV infection in infants/children or adults.
Indications for performing a PCR for HIV Diagnosis
• Infants/Children aged at least one month and born to HIV infected mothers.
• Adults exposed to HIV infected fluids, at least 2 -3 weeks after exposure.
Specimen
• Blood 2-4 mls in EDTA (purple/lavender-top) vacutainer or
• Dried blood spots on a filter paper.
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PCR test for HIV Viral load (HIV-1 RNA Quantitative PCR)
Clinical Uses
• Monitor progression of HIV-1 infection
• Determine when to initiate antiretroviral therapy
• Monitor effect of antiretroviral drug therapy
Clinical Background
Measurement of HIV-1 RNA plasma levels (viral load) provides a direct assessment of viremia. The
baseline (pre-treatment) HIV-1 RNA level, combined with the baseline level of CD4+ T-cells,
predicts progression to AIDS and death. Periodic viral load assessment can be used to track the
actual progression of the infection and is an essential parameter for determining when to initiate
therapy. Once therapy has begun, HIV-1 RNA levels provide important information regarding
therapeutic response. Following initiation or a change in the antiviral regimen, responders show a
rapid decline in viral load by 2 to 8 weeks and a maximum antiviral effect on HIV-1 RNA in 4 to 5
months. Decreases in viral load have been found to be correlated with improved clinical outcome (ie.
survival). Thus, HIV-1 viral load measurement is very essential before, and during antiretroviral
therapy.
Indications for an HIV Viral load measurement
1. Soon after an HIV diagnosis.
2. Every 3 to 4 months (HIV-1 RNA) to monitor progression in untreated patients.
3. Immediately prior to initiation of therapy.
4. Two to 8 weeks and again at 3 to 4 months after initiation of therapy; and
5. Every 3 to 4 months thereafter to monitor continuing effectiveness of therapy.
If HIV-1 RNA is still detectable after 16 to 24 weeks of therapy, the measurement should be
repeated for confirmation, using a second sample, prior to changing therapy.
Specimens to send to MBN Lab
Blood 2-4 mls in EDTA (purple/lavender-top) vacutainer.
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PCR for Toxoplasma gondii
Clinical Uses
Diagnosis of active infection with T. gondii
Clinical background
Toxoplasma gondii, an obligate intracellular protozoan parasite, causes a wide spectrum of diseases
including encephalitis, chorioretinitis and congenital toxoplasmosis syndrome. Encephalitis is
common among patients with cell-mediated immunosuppression such as in advanced HIV/AIDS or
those on cancer chemotherapy, where it causes a rapidly progressive fatal disease.
Diagnosis of T. gondii based on clinical assessment and serologic detection of antibodies is not
definitive, since 60-90% of normal adults are positive for these antibodies. Tests for detection of
parasite antigens are relatively expensive, and often require a combination of assays. Culture
isolation of the parasite is not suitable in most settings, while demonstration of parasites in tissue by
histological examination is limited by the need to biopsy neuronal tissue – a rarely performed
procedure.
Detection of T. gondii DNA using PCR offers the most appropriate, rapid and accurate technique for
laboratory diagnosis of active toxoplasmosis in new or reactivation disease in routine clinical
practice. The T. Gondii PCR assay is highly specific and the sensitivity on whole blood and buffy
coat is up to 85% (1).
Indications for a PCR for Toxoplasma gondii
• Patients with symptoms of toxoplasmosis encephalitis
• Infants with congenital toxoplasmosis
Specimens
Blood 2-4 mls in EDTA (purple/lavender-top) vacutainer
References
1.
Burg JL et al Aug 1989. Direct and sensitive detection of a protozoan parasite T. gondii by
PCR Journal Clin Microb Vol.27(8): 1787-1792)
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PCR for Pneumocystis jirovecii
Clinical uses
This test is used for the diagnosis of etiologic agent of pneumocystis pneumonia (PcP).
Clinical background
Pneumocystis pneumonia is one of the most predominant opportunistic diseases in AIDS patients
whose CD4+ count is below 200 cells per µl. This type of pneumonia is caused by a fungus called
Pneumocystis jirovecii. Active infection with this fungus causes interstitial pneumonia of the lungs
resulting into hypoxia and dypsnea, which may be fatal.
Laboratory diagnosis of pneumocystis pneumonia (PcP) can be performed with microscopic
demonstration of pneumocystis organisms in samples of alveolar material such as
bronchoalveolar lavage (BAL), induced sputum (IS) or lung biopsy samples. Microscopic techniques
may however be subjective. Higher detection sensitivity can be reached by using commercialized
fluorescein- or enzyme-labeled monoclonal or polyclonal Pneumocystis antibodies on BAL smears
but the specificity of this test is low.
Highly sensitive and specific PCR tools help to improve the clinical diagnosis of PcP allowing an
accurate, early diagnosis of pneumocystis infection, thus decreasing the duration from onset of
symptoms to treatment, a period with recognized impact on prognosis.
At MBN lab, we offer a rapid and accurate PCR test for Pneumocystis jirovecii (PJP) in
bronchoalveolar lavage (BAL), induced sputum (IS) or lung biopsy samples for use in clinical
diagnosis, therapy and epidemiology.
Indications for the PCR test for Pneumocystis jirovecii
• Patients known to be immunocompromised who present with symptoms suggestive of PcP
Samples to send
One of the following:
• Bronchoalveolar lavage (BAL)
• Induced sputum (IS)
•
Lung biopsy samples
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Mycobacteria tests
Background
Mycobacteria are the causative organisms of tuberculosis, a human infectious disease. The lungs are
primarily infected (85% of cases), but the bacteria can also spread into other organs or parts of the
body. Mycobacteria are subdivided into three groups: the Mycobacteria tuberculosis complex, the nontuberculosis mycobacteria called NTM or MOTT (Mycobacteria Other Than Tuberculosis) and
Mycobacteria leprae. Within the first two groups are several species, which should be differentiated in
the laboratory as they respond differently to the drugs used in TB treatment.
The members of the Mycobacteria tuberculosis complex cause tuberculosis (TB), which is one of the
world`s most common severe infectious diseases in both HIV infected and non-infected people.
With 9 million new TB cases each year and approximately 2 million deaths per year, TB is a
significant problem more so in the developing countries. A single patient with an open /active TB
may infect 10-15 other people each year, making TB a highly infectious disease that is spread
through coughing, sneezing or talking.
Four parameters are of crucial importance for the control of TB:
1. Early diagnosis of TB and drug resistant TB
2. Effective treatment with anti-tuberculous drugs
3. Prevention of the development of drug resistance
4. Prevention of TB spread
An early TB diagnosis requires highly sensitive tests and the laboratory is very critical as it provides
the quickest and most reliable results. In Uganda, the WHO estimates that over 100,000 TB cases
occur annually (WHO report 2009), but only around 40, 000 cases are detected by the means
available to the TB control program (half of these with the Ziehl-Neelsen (ZN) microscopy, the rest
on clinical or X-ray findings). A huge 60,000 TB cases go undetected annually, thus the need for
better tests to diagnose TB in Uganda.
Multidrug-resistant tuberculosis (MDR-TB) strains, which are resistant to the most important drugs
isoniazid and rifampicin have been shown to be increasing rapidly. This trend has reached alarming
proportions. The annual global MDR-TB burden is estimated at around 425 000 cases, or 5% of the
global tuberculosis burden. In Uganda 0.5-1% and 12-19% of new and retreatment TB cases,
respectively have MDR-TB. Extensively drug-resistant tuberculosis (XDR-TB) defined as MDR-TB
with additional resistance to fluoroquinolones and to at least one injectable anti-TB drugs
[aminoglycosides or capreomycin] has already spread throughout all regions of the world where in
some countries more than 20% of all MDR- TB cases are XDR. Due to the increasing number of
HIV/AIDS cases and immunosuppressive treatments, there is also a continuous increase in nontuberculous mycobacterial infections. Species differentiation is therefore of crucial importance for
finding an appropriate antibiotic treatment.
MBN Clinical Laboratories offers rapid, easy and cost-efficient molecular diagnostic systems for
detection of TB, MDR-TB, XDR-TB, speciation of members of the MTB complex and members of
the atypical Mycobacteria. We employ world class scientific techniques in diagnostics, making our
laboratory the most innovative in the region. Our Molecular TB tests are based on PCR and nucleic
acid hybridization technology and are performed on either pulmonary or extra pulmonary samples
or from solid/liquid cultures. We will now very briefly take you through our chain of tests and
guide you on where to apply each test.
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PCR test for M. tuberculosis diagnosis
(GenoQuick MTB)
Clinical uses
Your rapid molecular genetic test system for the detection of M. tuberculosis complex directly from
smear negative or positive sputum or extra pulmonary specimens.
Clinical Background
Patient with active TB may turn out AFB smear negative because the ZN smear microscopy test,
which has a sensitivity of only around 50%, requires at least 10 000 bacilli per ml of sputum to
detect a positive result. The sensitivity is even lower (30%) in HIV/AIDS patients.
The PCR test for M. tuberculosis (MTB) at MBN Clinical Laboratories has been optimized to detect as
low as 1000 bacilli per ml of sputum, making it a highly sensitive and specific assay. This test is
especially suitable for laboratory diagnosis of patients with suspected TB but in whom the sputum
AFB smear microscopy is negative or those who are smear positive but require confirmation of
microscopy results.
The test procedure is divided into the following steps: DNA extraction from decontaminated patient
specimens, amplification of mycobacterial DNA by PCR (M. tuberculosis complex-specific target),
hybridization of amplicons with specific probes and detection of amplicon-probe-complex on a
lateral-flow-dipstick. The duration of the test procedure takes only approx. 3hours.
Your Benefits with PCR test for M. tuberculosis (MTB)
1. High sensitivity and specificity: the detection of a MTBC-specific sequence guarantees a
reliable analysis.
2. Fast: rapid 3 hours procedure.
3. Direct analysis: starting from decontaminated patient specimens leads to same day results.
4. Safe: internal controls give increased confidence in results.
Indications
1. Smear negative but clinically suspected TB
2. Smear positive TB patients but in whom confirmation of microscopy results is needed.
Specimens to send to MBN Clinical Laboratories
1. Sputum or other pulmonary samples
2. Extra pulmonary specimens
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PCR test for species id within the MTB complex
(GenoType MTBC)
Clinical uses
Your test system for differentiation of members of the Mycobactrium tuberculosis complex.
Clinical Background
TB is caused by members of the Mycobacterium tuberculosis complex. The M. tuberculosis complex
includes the species M. tuberculosis, M. africanum, M. bovis, M. microti and M. canettii, which can be
furthermore divided into various subspecies. Early identification of the species is crucial for the
selection of suitable anti-TB drugs. When using conventional biochemical diagnostic procedures, the
differentiation of the mycobacterial species requires too much valuable time, and the accuracy is
suboptimal.
The GenoType MTBC offers an accurate, affordable and time saving approach, and avoids the
costly time consuming biochemical analyses. This test guarantees reliable identification of the
Bacillus Calmette-Guérin (BCG) strain. The BCG vaccine strain is a derivative of M. bovis attenuated
in its pathogenicity and is used for immunization against TB and for immunotherapy of malignant
tumours, such as bladder cancer. M. bovis BCG strain can cause active disease after vaccination of
HIV- immunosuppressed children and therefore requires an exact differentiation from the other
members of the M. tuberculosis complex since the medication strategy may differ.
M. bovis causes TB in domestic and wild animals, but is also of significance in human medicine in
patients who take unprocessed milk. Its distinction from M. tuberculosis is particularly important for
care and for epidemiological reasons in such populations. The differentiation of the subspecies M.
bovis ssp. bovis and M. bovis ssp. caprae, is important from a therapeutic point of view. These subspecies
differ with regard to their sensitivity to the tuberculostatic pyrazinamide (PZA): whereas M. bovis ssp.
caprae is PZA-sensitive, while M. bovis ssp. bovis is PZA-resistant. The test also grants a reliable
discrimination of M. africanum and M. microti against the other species of the complex.
Your benefits with this test
1. Can be performed from solid and/or liquid culture samples.
2. Differentiation of all M. tuberculosis complex members on one simple and rapid assay, which
provides an indication of adequate treatment, for example M. bovis ssp. bovis is in contrast to
M. bovis ssp. caprae resistant to the tuberculostatic pyrazianamide; the vaccination strain BCG
may not require any medication.
3. Results are obtained within 3 hrs compared to several weeks with conventional methods.
Specimen to send to MBN Clinical Laboratories
1. Liquid or solid culture growth
2. Clinical specimens e,g sputum, lymph node aspirates, etc for initial culture
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PCR test for species id of atypical Mycobacteria
(GenoType Mycobacterium CM/AS)
Clinical use
Your test system for identification of the M. tuberculosis complex and 30 of the most common NTM
species from cultured AFB positive isolates.
Clinical Background
Members of the genus Mycobacterium can be distinguished between the tuberculosis pathogens and
non-tuberculosis pathogens (NTM, Non-Tuberculous Mycobacteria). Whereas tuberculosis
pathogens predominate in the disease, NTMs often cause chronic mycobacterioses. Infectiousness
and symptoms vary in a broad range and depend both on the pathogen as well as on the
immunocompetence of the person affected. If the body’s own immune defense is weakened such as
in HIV or leukemia patients, NTM can spread unhindered in the organism and may lead to
infections. This is a serious threat that requires rapid diagnosis and appropriate treatment.
In view of the varying pathogenicity and apathogenicity of some species, a fast and certain species
differentiation is most essential, since the drug choices may differ based on the exact species. A late
diagnosis and hence a delay in the beginning of the appropriate treatment is detrimental to the
success of the treatment, and aids more transmission. Species identification using biochemical
methods is very time-consuming (weeks) and may be inaccurate or less discriminatory. In the
interest of the patients, biochemical analyses should be replaced by fast and exact molecular genetic
diagnostics.
The GenoType Mycobacterium CM/AS test gives you the ability to diagnose the exact species of
NTMs in patients with a positive culture result for Mycobacteria. This helps you to decide on an
appropriate treatment early.
Your benefits with this test
Can be performed from solid and/or
liquid culture samples.
Allows the detection of even weakpositive cultures and mixed cultures from
fast- and slow-growing mycabacteria.
Results are obtained within 3 hrs
compared to several weeks with
conventional methods.
Indications for the GenoType Mycobacterium CM/AS test
1. When speciation of the Mycobacteria is desired
Specimen to send to MBN Clinical Laboratories
1. Liquid or solid culture growth
2. Samples such as sputum, Lymph node aspirates, blood, etc for culture, then speciation.
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PCR test for MDR-TB (Multi drug resistant TB)
(GenoType MTBDRplus)
Clinical uses
Your test system for the identification of the M. tuberculosis complex and definite detection of MDRTB (resistance to rifampicin and/or isoniazid) from smear-positive pulmonary specimens or cultures
Clinical Background
If TB is diagnosed and treated properly, it is curable and millions of people all over the world have
been healed from the illness. But if the anti-TB drugs are misused or mismanaged, multidrugresistant TB (MDR-TB) can develop, and this is a major threat to TB control, particularly in Sub
Saharan Africa, Eastern Europe and Asia. In Uganda, 0.5-1% and 12-19% of new and retreatment
TB cases, respectively have MDR-TB. For this reason, a diagnosis of tuberculosis remains
incomplete if the clinician cannot know with certainty, the susceptibility profile of the Mycobacteria
in the patient. MDR-TB does not respond to standard treatments using first line drugs, and requires
second line drugs. With second-line drugs, MDR-TB treatment takes 2 years, the drugs are more
expensive, some are injectable-only and have more side-effects, and the a death rate exceeds 50%
even on treatment. Thus, early detection of MDR-TB is very critical as it permits clinicians to plan
treatment, personal protection, patient isolation and prevention of further infection of others.
Conventional culture techniques are too lengthy (require 2-3 months for a valid result). The PCR
test for MDR-TB (GenoType MTBDRplus) offers a very rapid and accurate means of diagnosing
MDR-TB with sensitivity and specificity exceeding 98%.
Your benefits with this test
Direct test: Can be performed
directly on smear positive sputum.
Rapid: Same day diagnosis of
MDR-TB compared to several
weeks-months with conventional
Mycobacterial culture methods.
The identification of rifampicin resistance is enabled by the detection of the most significant
mutations of the rpoB gene (coding for the β-subunit of the RNA polymerase). For testing of high
level isoniazid resistance, the katG gene (coding for the catalase peroxidase) is examined and for
testing of low level isoniazid resistance, the promoter region of the inhA gene (coding for the
NADH enoyl ACP reductase) is examined.
Indication for the GenoType MTBDRplus test
1. New or retreatment TB patients confimed to be AFB smear positive.
Specimens to send to MBN Clinical Laboratories
1. Smear-positive specimens - sputum or others.
2. Liquid/solid culture samples.
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PCR for XDR-TB (extensively drug resistant TB)
(GenoType MTBDRsl)
Clinical uses
Your test system for identification of the M. tuberculosis complex and its resistance to
fluoroquinolones (e.g. ofloxacin and moxifloxacin) and/or injectable second line TB
aminoglycosides (kanamycin/amikacin)/cyclic peptides (capreomycin). Ethambutol resistance is also
assessed.
Clinical Background
XDR-TB describes TB caused by strains of M. tuberculosis that are not only MDR (resistant to the
rifampicin and isoniazid) but also resistant to any of the fluoroquinolones and at least one of the
injectable anti-TB drugs used when “first-line” treatment has failed. With XDR-TB, the treatment
options are seriously limited. To prevent and control the spread of XDR-TB it is essential to have
access to laboratory facilities with rapid tests for TB and drug susceptibility testing (DST) to provide
proper diagnosis and treatment to all TB patients.
Our PCR test for XDR-TB (GenoType MTBDRsl) gives you the possibility to diagnose XDR-TB
among patients with MDR-TB in just under 8 hours so you can best plan what to do next for the
patient.
Your benefits with this test
Direct test: Can be
performed directly on smear
positive sputum.
Rapid: Same day diagnosis
of XDR-TB
Detection of XDR-TB in
patients previously
diagnosed with an MDR-TB
The identification of resistance to fluoroquinolones is enabled by the detection of the most
significant mutations of the gyrA gene (coding for DNA gyrase). For the detection of resistance to
aminoglycosides/cyclic peptides, the 16S rRNA gene (rrs) and for detection of resistance to
ethambutol the embB gene (which, together with the genes embA and embC, codes for arabinosyl
transferase) are examined.
Indications: MDR-TB patient
Specimens to send to MBN Clinical Laboratories
1. AFB smear-positive specimens – sputum or other.
2. AFB positive Liquid/solid cultures.
Page 14 of 32
PCR for MRSA (methicillin-resistant S. aureus)
(GenoQuick® MRSA)
Clinical uses
Your rapid test system for direct detection of methicillin-resistant Staphylococcus aureus strains from
patient samples.
Clinical Background
MRSA (methicillin-resistant S. aureus) is resistant to all B-lactam antibiotics (all penicillins, Blactamase inhibitors, cephalosporins, and carbapenems). Detection of MRSA is therefore not only
essential for patient care (drug selection) but also for epidemiological surveillance and MRSA
control of this hitherto dangerous pathogen. MRSA tests based on culture and drug susceptibility
testing require up to 3 days for a final result.
Our PCR-based test system allows you to have fast and reliable direct detection of methicillinresistant S. aureus from patient samples. The test system is primarily suited for primary screening of
patients with a suspicion of MRSA. A reliable test result is achieved after only approx. 2.5 hours.
Through the detection of a MRSA-specific fragment which is not present either in MSSA
(methicillin-susceptible S. aureus) or CNS (coagulase-negative staphylococci), MRSA can also be
reliably detected in mixed colonization. Thus, unlike conventional diagnostics, a pure culture is not
necessary. Valuable time is thus saved, and if necessary, hygiene and isolation measures can be
promptly taken and therapeutic steps initiated.
Your benefits with PCR test for MRSA
High specificity: through the detection of a MRSA-specific fragment, mix-ups with MSSA or
CNS staphylococci are avoided.
Fast result: performing a test directly from the smear swab makes it possible to obtain a result
in only approx. 2.5 hours.
Reliable result: because of the very high sensitivity of the test, a valid result is possible even in
the presence of only small amounts of bacteria of 12 - 30 CFU (colony forming units).
Specimen to send to MBN Clinical Laboratories
Swabs (nose, throat, skin and wounds) or Cultures of staphylococcus.
Page 15 of 32
PCR test for MRSA & PVL toxin producing S. aureus
(GenoType Staphylococcus)
Clinical use
Your test system for rapid identification of the mecA gene responsible for MRSA, and PVL genes in
cultured isolates of staphylococcus.
Clinical background
The staphylococcal mecA is a chromosomal gene that encodes for a protein responsible for MRSA
(methicillin or oxacillin resistant resistant S. aureus). Strains of S. aureus which poses the mecA gene
are resistant to ALL currently available β-lactam antibiotics including all cephalosporins and
carbapenems. Thus, patients with MRSA strains can only be treated by other drugs such as
vancomycin. A recent study in Mulago Hospital documented the mecA gene in 29% of isolates from
surgical wound infections. The Panton-Valentine Leukocidin genes (lukS and lukF) in S. aureus
encode for a virulence toxin - Panton-Valentine Leukocidin (PVL). The PVL toxin binds to the cell
membrane of leukocytes causing degranulation and release of inflammatory mediators resulting into
multiple furuncles; musculocutaneous abscesses; leucopenia; fatal necrotizing pneumonia with
hemoptysis; and toxic shock particularly in immunocompetent children and young adults.
Thus, S. aureus possessing either the mecA alone or both mecA and the PVL genes should be ruled
out as soon as possible, either through routine screening of normal individuals or through testing of
clinical specimens/cultures.
The PCR test for MRSA & PVL toxin producing S. aureus (GenoType Staphylococcus )
enables molecular genetic identification of S. aureus and six relevant coagulase-negative
staphylococci. By distinguishing coagulase-negative staphylococci which also may carry the mecA
gene, false-positive MRSA results are avoided. Moreover, the mecA gene which causes methicillin
resistance as well as a specific fragment of the PVL gene are simultaneously detected. Through
detection of the PVL-specific fragment, reliable and unambiguous detection of community acquired
CA-MRSA is possible. In contrast to nosocomial MRSA, CA-MRSA do not demonstrate multiresistance to antibiotics. Differentiating CA-MRSA from nosocomial MRSA therefore makes sense
from a therapeutic and epidemiological point of view. A reliable and cost-effective staphylococcus
differentiation based on a single assay is therefore guaranteed.
Your benefits with this test
Unambiguousness: detecting S. aureus as well as six relevant
coagulase-negative staphylococci makes unambiguous
differentiation possible with only a single assay.
High specificity: the simultaneous detection of the mecA gene
as well as a PVL-specific fragment provide an unambiguous
differentiation between nosocomial infections and CA-MRSA.
Rapid result: a culture differentiation from the overnight
culture is possible in only 4 hours. Rapid diagnosis is thus
ensured.
Indications
Speciation of staphylococcus and detection of MRSA and PVL S. aureus
Specimens to send to MBN Clinical Laboratories
1. Primary cultures - freshly grown bacteria preferred
2. Any clinical sample suspected to have S. aureus , for culture at MBN Lab & then do the PCR.
Page 16 of 32
PCR test for Helicobacter pylori & its resistance to fluoroquinolones/clarithromycin
(GenoType HelicoDR)
Clinical uses
Your test system for the reliable identification of Helicobacter pylori, the bacterium that causes peptic
ulcers and its resistance to fluoroquinolones and clarithromycin.
Clinical Background
An enormous number of people in the World suffer from Helicobacter infection - the bacterial
cause of peptic/duodenal ulcers. All these people require treatment with at least an antibiotic. In
these ulcer illnesses, initial eradication treatment may be successful or my fail. Because of such failed
treatments, the rate of resistance to first-line antibiotics increases. This rate is over 80% for
clarithromycin in a patient who has already had several treatments. Consequently alternative
antibiotics must be resorted to, for example, from the fluoroquinolone group. But even here, there
are already initial resistances in the case of Helicobacter pylori. Thus, according to the treatment
recommendations, a biopsy to test resistances should be taken no later than after the first failed
treatment, in order to find the best antibiotic combination for the patient.
A very rapid, accurate and simple option to detect H. pylori and its resistances is the GenoType
HelicoDR, a PCR test for Helicobacter pylori & its resistance to fluoroquinolones/clarithromycin.
With this molecular genetic test system, the presence of H. pylori and resistances to fluoroquinolones
and clarithromycin are simultaneously detected with one test. Biopsy material itself as well as culture
material extracted from it can be used as the starting material.
Your benefits with this test
Reliable diagnosis: using
molecular genetic testing, resistance to
clarithromycin as well as fluoroquinolone
can be detected. This enables individual
treatment adapted to the patient.
Indications for the GenoType HelicoDR test
Peptic ulcers
Peptic ulcers refractory to treatment
1.
2.
Specimen to send to MBN Clinical Laboratories
1. Culture isolates
2. Biopsy material
3. You can send the patient to MBN Lab for Biopsy.
Page 17 of 32
Rapid result: If a grown culture is
submitted, the test takes only 5 hours. If a
biopsy is starting material, it requires 1-3
days, thus it saves a significant amount of
time. The patient can thus be cured faster
with an appropriate treatment.
No constraints: no living cells are
needed for detection. This also allows for
a reliable result 48 hours after the biopsy
is taken.
PCR test for Chlamydia trachomatis (urethritis/cervicitis)
(GenoQuick CT)
Clinical uses
Your rapid test system for direct detection of Chlamydia trachomatis from patient samples in the
diagnosis of Non-gonococcal urethritis/cervicitis
Clinical Background
Chlamydia trachomatis is the most common cause of non-gonocoocal urethritis in men and cervicitis in
women. In women, it is the commonest cause of infertility related to tube blockage. Chlamydia
trachomatis is sexually transmitted but most people do not know that Chlamydia infections are among
the most common sexually transmitted diseases. And because of this ignorance, the number of
infected persons are mostly not diagnosed, not treated and are constantly increasing and spreading
the infection. Conventional testing for Chlamydia trachomatis requires culture in cell lines, a difficult
and expensive approach. Another approach, where C. trachomatis antigens are detected in the
urethral/cervical discharge may not be adequately sensitive/specific.
The PCR test (GenoQuick CT) for Chlamydia trachomatis permits rapid and reliable detection
of Chlamydia trachomatis DNA directly from patient samples and is therefore ideally suited for use in
Chlamydia screening.
Your benefits with this test
High sensitivity and specificity: simultaneous detection of two highly preserved DNA target
sequences (MOMP in the C. trachomatis genome, cryptic plasmid) guarantees the reliable
detection of C. trachomatis.
Reliable result: internal controls document the validity of the result and ensure impeccable
testing. A recently discovered Scandinavian mutant with deletion in the cryptic plasmid is also
detected.
Indications for the GenoQuick CT test
Urethral discharge
Abnormal cervical discharge
1.
2.
Specimen to send to MBN Clinical Laboratories
1. First-void morning urine
2. Cervical swab
3. Urethral swab
4. Ejaculate
5. Conjunctival swabs
6. Synovial fluid
Page 18 of 32
PCR for Bordetella pertussis and B. parapertussis
(GenoQuick Bordetella)
Clinical uses
Your rapid test system for direct detection of B. pertussis and B. parapertussis from nasopharyngeal
swabs
Clinical Background
Whooping cough is more than just a childhood disease. In the past few years, the incidence in
children, adolescents and adults has considerably increased. The reasons for this are primarily the
decrease in immunity due to failure to get booster vaccinations. In adolescents and adults, whooping
cough or pertussis, because of the atypical course of the disease without characteristic coughing
spells, is often not correctly recognized and therefore not treated. Thus, these age groups bear a
great risk to the infection of toddlers.
Newborns and infants do not have any immunity to pertussis until they are vaccinated. They are
therefore particularly at risk of suffering serious complications, such as apnoea or pneumonia.
Therefore the early and reliable diagnosis of whooping cough is extremely important in order to
promptly begin targeted antibiotic treatment and thus break the chain of infection.
Our PCR-based rapid test system (the GenoQuick Bordetella) enables you to have direct detection
of Bordetella pertussis and Bordetella parapertussis from patient samples in a few hours. This rapid
state of the art technology allows a result to be communicated on the day the sample is received.
Your benefits with this test
1. High sensitivity and specificity: the simultaneous detection of two highly preserved DNA
target sequences, IS481 and IS1001, guarantees the reliable detection of B. pertussis and B.
parapertussis.
2. Reliable result: internal controls document the validity of the results and secure safe and
impeccable test procedures.
3. Rapid result: rapid execution of the test within approx. 2.5 hours enables the result to be
reported on the day the sample was received!
Specimens to send to MBN Clinical Laboratories
1. Nasopharyngeal swab
Page 19 of 32
PCR for EHEC (Enterohaemorrhagic E. coli)
(GenoType EHEC)
Clinical uses
Your test system for detection of Enterohaemorrhagic E. coli (a cause of bloody diarrhea) through
detection of the shiga toxin genes, the intimin gene eae as well as the ipaH gene.
Clinical Background
Enterohaemorrhagic E. coli (EHEC) are characterized by very high infectivity. Generally 10-100
pathogens are enough to trigger an infection and thus also possible serious complications, such as,
for example, haemolytic-uraemic syndrome. Improved laboratory diagnostics are therefore
indispensable for the early detection of illnesses, in order to not only lessen the course of the
disease, but also to avoid disease outbreaks, especially in shared facilities.
Microbiological detection of EHEC is problematic, since EHEC are not externally distinguished
from apathogenic E. coli. Even the use of special nutrient media or serological determination detects
only a part of the pathogen types described. The most important diagnostic criterion in the detection
of pathogenic EHEC infection must therefore be the shiga toxin formed by the bacteria. This
determination requires the use of molecular-biological methods to detect the responsible gene.
With our PCR-based test system (GenoType EHEC), a reliable and rapid EHEC diagnosis is
feasible. Starting from the primary culture, the shiga toxin genes that are important for reliable
detection of EHEC are detected. Differentiating EHEC from shigella and EIEC is assured through
the detection of the shigella-specific virulence factor ipaH.
Your benefits with this test
Unambiguous result: a reliable differentiation of E. coli and Shigella ssp. as well as the
detection of the diagnostically significant shiga toxin gene and the intimin gene eae provides
you with unambiguous results and thus an efficient EHEC diagnosis.
Rapid result: detection is done using the primary culture within one workday and thus
enables the rapid detection of EHEC.
Specimens to send to MBN Clinical Laboratories
1. Primary cultures - freshly grown E.coli bacteria preferred
2. If no culture available, you can send a fresh stool sample for culture at MBN Lab.
Page 20 of 32
PCR test for VRE (Vancomycin-resistant enterococci)
(GenoType Enterococcus)
Clinical uses
A molecular genetic test system for detection of Vancomycin-resistant enterococci from cultures.
Clinical Background
Enterococci are Gram-positive lactic acid bacteria which play an important role in the environment,
in humans and animals, as well as in the food industry. Nonetheless, certain enterococci strains, such
as E. faecalis and E. faecium, have become more important, particularly in the case of persons with
weakened immune systems. Enterococci are the most common pathogens of nosocomial urinary
tract infections, infections in the area of dialysis shunts, as well as wound infections and
endocarditis. Enterococci are intrinsically resistant to many antibiotics (including cephalosporins,
quinolones, clindamycin). In addition, they can easily acquire additional resistances. Because of a lack
of therapeutic alternatives, the increasing appearance of vancomycin-resistant enterococci (VRE), is
particularly worrisome. Therapeutic alternatives for antibiotic treatment are still insufficient.
Therefore, rapid typing of resistances that appear, as well as enterococci differentiation, is of major
therapeutic and epidemiological significance.
Conventional methods can only detect the phenotypical characteristics of the resistance and not,
however, the genetic background. In addition, they are very time-consuming, with a reliable
diagnosis being determined only after 2-5 days.
The PCR test for Vancomycin-resistant enterococci (GenoType Enterococcus), in contrast,
allows you to have a rapid and reliable enterococci diagnosis. Through simultaneous species
differentiation and determination of resistance, the types E. faecalis, E. faecium, E. casseliflavus and E.
gallinarum can be differentiated, and any vancomycin resistance (vanA, vanB, vanC1 and vanC2/C3)
demonstrated. Thus our test system is not only a reliable method of detection, but also saves
essential time in characterization of the genetic basis of resistance.
Your benefits with this test
High sensitivity and specificity: the differentiation of E.
faecalis, E. faecium, E. casseliflavus and E. gallinarum as well as
determination of vancomycin resistance enables you to have
efficient enterococci diagnostics in one test.
Time-saving: Simultaneous species differentiation and
resistance determination within 21 hours saves a considerable
amount of time as compared to conventional methods.
Specimens to send to MBN Clinical Laboratories
1. Primary culture - freshly grown bacteria preferred
2. If no culture available, you can send a clinical sample for initial culture at MBN.
Page 21 of 32
PCR test for 11 Periodontopathogenic bacteria that cause Periodontitis and peri-implantitis
(Micro-IDent and Micro-IDentplus tests)
Clinical uses
Your test system for the reliable identification of 5 and 11 periodontopathogenic bacteria causing
Periodontitis and Peri-implantitis.
Clinical Background
Periodontitis and peri-implantitis are infectious diseases of periodontal tissues caused by a unique
group of periodonto-pathogenic bacteria. These bacteria actively destroy endogenous tissue, cause
inflammatory reactions and in the end, are responsible for the loss of teeth and implants. In the
event of peri-implantitis, inflammation of the soft tissue leads to bone resorption. This causes an
implant to become unstable and, in the end, even to fall out.
To ensure long-term success of implants, the bacteria that may cause failure of the implant should
be identified and treated first. The therapy requires a targeted elimination of these bacteria before
dental implantation. Our PCR test system has two options; one option supplies data on 5, while the
other additional option supplies data on 11 Periodontal and Peri-implantitis pathogenic species,
respectively, and their affiliation to so-called “bacterial complexes. The test results represent the
optimal basis for the design of individual therapy, which is normally a combination of mechanical
forms of therapy and adjunctive systemic or local antibiotic administration, allowing an increase in
the success rate of the therapy while the relapse rate is dramatically reduced. Once the therapy is
done and the marker pathogenic bacteria eliminated the time is due for placing an endosseous
implant. This is a simple way to ensure optimal treatment reliability in the interest of both the dentist
and patient.
Option 1: micro-IDent®
Option 2: micro-IDent®plus
Your benefits with this test
1. Quantitative, highly specific and sensitive marker pathogen analysis for optimization of
therapeutic decisions and follow-up intervals.
2. Choice of appropriate antibiotics ensures high rate of therapeutic success
3. Monitoring of therapeutical success
4. Risk assessment for implant failure prior to extensive prosthetic rehabilitation
Indication
1. When pocket depth > 4mm with BOP (despite excellent oral hygiene)
2. Therapy-resistant, refractory adult periodontitis
3. Acute and progressive infections or infections of osseointegrated implants
Specimens to send: Subgingival samples - collected with paper points and placed in sterile tube.
Page 22 of 32
HUMAN DNA/GENETIC TESTS
DNA Paternity Testing
DNA testing is an accurate method for confirming the biological relationship between individuals or
between two samples recovered during a forensic investigation. The most common form of testing
is DNA paternity testing, done to confirm the relationship between an alleged father (or sometimes
mother) and a child.
We offer a reliable DNA paternity test that can be used for resolving medical, legal, immigration or
other personal issues. Our DNA paternity test is conducted with the latest technology available for
DNA paternity testing in an accredited laboratory. Results will be ready in 14 - 21days from the date
of sample receipt, and the accuracy is as high as 99.9999%.
We understand that clients requiring paternity testing may sometimes have complex or delicate
issues. For this reason, we practice the highest level of privacy/confidentiality, integrity and we offer
ongoing counseling for those who may wish to be counseled, before or after sample
collection/testing.
Samples
Saliva collected using an oral swab. Samples must be collected from the alleged father and child or
alleged mother and child in case of doubtful maternity issues.
Procedure for DNA Paternity testing
There is a possibility that DNA test results may subsequently end up in court. For the results to be
fully admissible in court, the testing process needs to be well documented. The following are
therefore required from the clients to allow us verify the identity of the parties being tested.
1. Two passport size photos – come with them or we will photograph the clients at MBN lab
2. One original ID document bearing a photo. Acceptable ID documents may be one of the
following: passport, driving permit, birth certificate, voter’s registration card, NSSF card,
National Identity Card, Armed Forces ID card, or Pass card issued by a Government agency.
3. Visit MBN Clinical Lab to consent for the testing and sample collection. For children less
than 18 years the accompanying parent or legal guardian can consent on their behalf.
The sampler (an independent medical professional at MBN lab) will endorse the consent form and
then collect the DNA samples from all participants using a painless oral swab.
Forensic DNA Testing
This is done to find out if there is a match between an evidence sample and a sample from the
suspect. Typically, the evidence sample is from the site of crime. Alternatively, two samples e.g.
blood stains recovered from two independent sites may be tested for a match. The three possible
interpretations for the results of a forensic DNA test are: a match, non-match, or inconclusive. A
match implies that the DNA profile obtained from the evidence sample is consistent with the DNA
profile obtained from the suspect. A non-match means that the DNA profile from the evidence
sample is not consistent with the DNA profile from the suspect. An inconclusive result means that
no interpretable data could be obtained from the samples submitted. This usually occurs because of
insufficient DNA in the sample or the DNA was of poor quality. This service of forensic DNA
testing is still under development. Call us for details.
Page 23 of 32
Definitive HLA-B27 gene detection for diagnosis of Ankylosing Spondylitis
(GenoQuick HLA-B27)
Clinical use
This is a test system for the definite detection of the HLA-B27 gene.
Clinical Background
Ankylosing spondylitis is a chronic rheumatic disease which primarily affects the spine. The early
symptomatology of the disease leads to movement limitations of the lumbar spine. Further on in the
course of the disease, the symptoms may worsen to the point of hardening of the bones of the
spine. The first signs of the disease are frequently nonspecific and are generally not associated with
the disease. There is generally a time period of 5-10 years between the initial symptoms and a
definite diagnosis. However, an early diagnosis is of crucial importance, since the course of the
disease can be influenced better when the disease is diagnosed early on.
Over 90% of patients with ankylosing spondylitis carry the HLA-B27 gene, which however is only
present in 8% of the “healthy” population. Thus the molecular genetic detection of HLA-B27 has a
very high diagnostic significance for the probability of developing ankylosing spondylitis.
Based on the high diagnostic significance, it is recommended that all patients with inflammatory
back pain undergo an HLA-B27 determination. Along with the clarification of additional
parameters, for example, the presence of a positive family history, the test result makes a definite
diagnosis possible.
Our GenoQuick HLA-B27 test system offers you definitive and easy determination of the HLAB27 gene and saves crucial time through early diagnosis of the patient.
Your benefits with GenoQuick HLA-B27
Definite result: All relevant subtypes of HLA-B27 are detected. This allows for a definite
diagnosis.
No living cells are needed for detection: In this way samples stored over a longer period
of time, can also be efficiently processed.
Samples to send to MBN Lab: EDTA/Citrate blood
Page 24 of 32
Diagnosis of Primary lactose (milk) intolerance
(GenoType LCT)
Clinical uses
This is a test system for definite diagnosis of primary lactose intolerance.
Clinical Background
It is estimated that 75% of adults worldwide show some decrease in lactase activity during
adulthood. The frequency of decreased lactase activity is more than 90% in some African and Asian
countries.
In lactose intolerance, adequate quantities of the enzyme lactase can no longer be formed in the
intestines and lactase deficiency results. A distinction is made between primary and secondary
lactose intolerance, depending on the cause of this decrease. In the case of primary lactose
intolerance, the decrease is genetically based and manifests itself starting at around 10 years of age.
In the case of the acquired secondary form, lactase deficiency is the consequence of another disease.
Due to lactase deficiency, lactose contained in food can no longer be digested and therefore reaches
the small intestine in an undigested form. Symptoms such as, for example, abdominal pain,
vomiting, diarrhea and flatulence result. Therefore, for persons with this symptomatology, after
organic causes are excluded, the presence of lactose intolerance should be considered and
investigated. In conventional function tests, lactase activity is examined. This type of determination
is particularly time-consuming and presents a significant physical burden on the patient.
Our DNA-based test is a quick approach to determination of the genetically based primary lactose
intolerance without significant patient burden. The test detects two polymorphisms in the lactase
gene in positions –13910 and –22018, which are associated with primary lactose intolerance and thus
makes definitive detection possible.
Your benefits with this test
Definite result: only genetically based lactose intolerance is detected, making it possible to
differentiate it from acquired lactose intolerance, which is treatable in some cases.
Rapid result: in contrast to complex function tests, the patient does not need to spend several
hours under medical observation. Only a blood sample is needed for the determination.
Specimens to send to MBN Clinical Laboratories: EDTA/Citrate blood
Page 25 of 32
Diagnosis of Hereditary Haemochromatosis - excess iron absorption
(GenoType HH)
Clinical Uses
This is a test system for the definite detection of mutations associated with hereditary
haemochromatosis.
Clinical Background
Five out of a thousand people have an increased risk of developing hereditary hemochromatosis
(HH). Hereditary hemochromatosis results from excessive iron absorption from food in the gut, a
disorder that occurs due underlying genetic changes. Since humans do not have an active excretion
mechanism for iron, excess iron is stored in organs such as the liver, heart and pancreas. This leads
to impairment in the affected organs and severe organ damage results. To prevent this, early
diagnosis of hereditary hemochromatosis is of crucial importance.
To diagnose or rule out hereditary hemochromatosis, persons with abnormal serum iron markers
and unexplained liver or heart disease, for example, should undergo genetic testing. If the disease is
present, the goal of treatment is to remove the excess iron from the body. One simple therapeutic
measure involves regular blood letting.
In 1996 the HFE gene that is closely associated with HH was discovered. Various mutations in this
gene can lead to iron overload. The most frequent is the C282Y mutation; more than 80% of all
HH patients are homozygous for C282Y. In addition, an increased risk of disease can be
demonstrated with the appearance of the compound heterozygote C282Y/H63D. This similarly
applies to the heterozygous expression of S65C/C282Y. A very rare mutation (E168X) also leads to
the HH disease pattern.
Our GenoType HH test system allows you to have a definite and rapid diagnosis of hereditary
haemochromatosis by the detection of these important mutations.
Your benefits with GenoType HH
Unambiguous diagnosis: with the detection of certain
genotypes, the suspicion of the presence of hereditary
haemochromatosis can be confirmed.
More information: In addition to the two most common
mutations (C282Y and H63D), rare
genotypes such as S65C & E168X are also detected, allowing a
comprehensive disease diagnosis.
Definite result: if the test is not processed under optimal
conditions, this will be indicated by an internal control.
Indications for the GenoType HH
Patients clinically suspected to have hereditary haemochromatosis.
Specimens to send: EDTA/Citrate blood
Page 26 of 32
Detection of Mutations in Factor V Leiden, prothrombin G20210A & MTHFR genes
(ThromboTypeplus test)
Clinical uses
This is a test system for the definitive detection of mutations associated with increased risk of
thrombosis. Factor V Leiden and prothrombin G20210A mutations as well as two mutations within the
MTHFR gene are detected.
Clinical Background
Thrombophilia or hypercoagulability describes an increased tendency to develop potentially dangerous
thrombosis (blood clots) due to an abnormality in the coagulation system. The clots might occur in veins
or arteries, posing a risk to the person's health. Thrombophilia is also associated with recurrent abortions
and late pregnancy loss, because women with these disorders may form small blood clots in the umbilical
cord or placental vessels, adversely affecting the placental circulation.
The Factor V Leiden mutation is the most frequent and most important change in the human genome
associated with thrombophilia. This causes the activated Factor V to be inactivated very very slowly and
therefore blood clotting is stimulated over a longer period of time. The homozygous Factor V Leiden
mutations causes a 100-fold increased risk of thrombosis, while heterozygosity causes a five- to tenfold
increased risk. The second most frequent mutation is the prothrombin G20210A mutation, which leads
to increased synthesis of the Factor II protein. In heterozygosity, there is a threefold increase in the risk
of thrombosis. An increase of the homocysteine level is likewise known to be a risk factor for venous
thrombosis, mainly in connection with additional thrombosis-related mutations. Mutations within the
methylenetetrahydrofolate reductase gene (MTHFR), for example, can lead to an increase in the
homocysteine level. The best documented change within the MTHFR gene is a point mutation at
position 677. This mutation leads to a loss of activity of the protein which can account for up to 60%.
An additional change in position 1298 also leads to a reduced enzymatic effect of MTHFR. This is
primarily in connection with the clinically relevant MTHFR C677T mutation.
Determination of the hereditary risk factors should be performed when, among other things, thrombosis
appears in childhood or if the thromboses are particularly severe. In addition, determination is indicated
when thrombosis occur frequently in the family. In particular, persons with multiple defects have a
significantly increased risk of thrombosis as compared to persons with only one or no genetic change.
For this reason, it is important to determine all four parameters to assess the risk of thrombosis. The
ThromboTypeplus test system allows you to simultaneously and definitively detect several clinically
relevant thrombosis-related mutations and thus an effective diagnosis of thrombophilia.
Your benefits with ThromboType®plus
Definite result: if the test is not processed under optimal
conditions, this will be indicated by an internal control
More information: the combined determination of these four
thrombosis-related mutations allows for effective diagnosis of
thrombophilia.
No limitation: genetic detection can also be done under
anticoagulation treatment and thus at any point in time.
Indications for ThromboTypeplus test
1.Thrombosis occur frequently in the family; 2.Thrombosis appears in childhood
3.Recurrent miscarriage; 4. Severe thromboses
Specimens to send to MBN Clinical Laboratories: EDTA/Citrate blood
Page 27 of 32
Detection of Two polymorphisms in PAI-1 gene
(GenoType® PAI-1)
Clinical uses
This is a test system for the definitive detection of two polymorphisms in the PAI-1 gene to assess
risk of vascular thrombosis
Clinical Background
Every year, thousands of people die from the consequences of vessel occlusions, such as a heart
attack or pulmonary embolism. Risk factors for such a vessel occlusion include, for example,
increased blood lipid values. However, the body’s own substances can also promote the
development of occlusions. Thus, an increase in the plasminogen activator inhibitor type 1 (PAI-1)
level is also a risk factor for venous and arterial thrombosis. Plasminogen activator inhibitor-1 is the
principal inhibitor of two proteins - tissue plasminogen activator (tPA) and urokinase (uPA), the
natural activators of plasminogen to plasmin, which normally results into fibrinolysis (physiological
breakdown of blood clots/re-dissolution of a thrombus).
Process of fibrinolysis. Blue arrows = stimulation; Red arrows = inhibition.
An increased PAI-1 level thus leads to a greater inhibition of the proteins (tPA and uPA), and
therefore to a slower breakdown of the blood clot.
Two mutations in the PAI-1 gene are associated with an increased PAI-1 level. Through insertion or
deletion, either 4 or 5 guanine nucleotides may be present at position –675. If the 4G allele is
present, there is an increased risk for venous thrombosis, primarily if additional thrombosis-related
mutations are also present. In addition, for this genotype, an increased risk of myocardial infarcts
and early miscarriages also occurs. In the case of the second change, there is an exchange of adenine
for guanine due to a mutation in position –844. If the A allele is present, the risk of venous
thrombosis is increased for Factor V Leiden carriers.
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Since there is an increased risk of thrombosis in connection with thrombosis-related mutations,
testing of the PAI-1 polymorphisms should be performed to assess individual thrombosis risk. In
addition, it is useful to test patients with coronary artery disease and high-risk pregnancies.
Our GenoType® PAI-1 test system allows you to detect with certainty the two polymorphisms, and
thus assess individual thrombosis risk.
Your benefits with GenoType® PAI-1
1. No limitation: Biochemical testing for the PAI-1 level in the blood is affected by various
factors, such as, glucose, insulin, etc. Testing the genetic basis is therefore recommended.
2. Definite result: If the test is not processed under optimal conditions, this will be indicated by an
internal control.
Indications for the GenoType® PAI-1 test
1. To assess individual thrombosis risk
2. Coronary artery disease
3. High-risk pregnancies (women at risk of thrombosis during pregnancy)
Specimens to send to MBN Clinical Laboratories
1. EDTA/Citrate blood
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Detection of three alleles of the human ApoE gene
(GenoType ApoE)
Clinical Uses
Your test system for the definitive detection of the three most frequent alleles of the human ApoE
gene, to assess the genetic risk of type III hyperlipoproteinaemia and coronary heart disease.
Clinical Background
Cardiovascular diseases are widespread and are amongst the most frequent causes of death. In
particular, increased cholesterol and triglyceride values in the blood are risk factors in this case.
Along with an unhealthy lifestyle, genetic changes may also cause an increase in blood lipid levels.
Apolipoprotein E (ApoE) is, for example, also affected by such changes. ApoE is a protein that
plays an important role in lipid metabolism. As a component of chylomicrons and the lipoprotein
VLDL, ApoE is responsible for the transport of cholesterol and triglycerides in the blood. In
addition, ApoE serves as a ligand for the LDL receptor and thus permits the metabolism of this
triglyceride- and cholesterol-rich lipoprotein.
As a result of genetic changes, three different forms of ApoE appear: ApoE2, ApoE3 and ApoE4.
The normally functioning ApoE3 differs from the two “defective” forms in each case by only one
amino acid, which however leads to considerable lipid metabolism disturbances. In the homozygotic
presentation, the ApoE2 allele is associated with type III hyperlipoproteinaemia. This clinical picture
leads to an increased risk of arteriosclerosis.
Testing for the presence of the ApoE2 allele can support the diagnosis of type III
hyperlipoproteinaemia and should be performed if the disease is suspected. Even in the case of
ApoE4 allele carriers, there can be after-effects on health due to disrupted lipid metabolism. Carriers
of this allele are exposed, for example, to an increased risk of coronary heart disease. Therefore, for
patients with increased cholesterol and triglyceride values, gene typing is likewise
recommended in order to clarify any genetic causes. In addition, the ApoE4 allele can provide
additional information, since an association with Alzheimer’s disease has been shown.
Our GenoType ApoE test system allows a definitive detection of the three alleles, which lead to the
forms ApoE3, ApoE2 and ApoE4 and supports you in the diagnosis of the known diseases.
Your benefits with GenoType ApoE test
No limitation: biochemical methods to detect the
various forms are complex and susceptible to faults.
With genotyping, by contrast, you obtain reliable
results rapidly.
Simple evaluation: evaluation is done using an
evaluation template; an interpretation table shows the
associated phenotype.
Indications for the GenoType ApoE test
1. Patients with increased cholesterol and triglyceride values
2. Patients suspected to have type III hyperlipoproteinaemia
3. Alzheimer’s disease
Specimens to send to MBN Clinical Laboratories: EDTA/Citrate blood
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Table 3. Some of the PCR/Molecular/DNA-based diagnostic tests at MBN Lab
Tick
Tick
PCR Tests for diagnosis of infectious pathogens
PCR for HIV Diagnosis - infants/adults
PCR for HIV Viral load
PCR for Toxoplasma gondii
PCR for Pneumocystis jirovecii (PCP)
PCR for M. tuberculosis (MTB)
PCR for species id within the MTB complex
PCR for species id of atypical Mycobacteria
PCR for MDR-TB (Multi drug resistant TB)
PCR for XDR-TB (extensively drug resistant TB)
PCR for MRSA (methicillin-resistant S. aureus)
PCR for MRSA & PVL toxin producing S. aureus
PCR for Helicobacter pylori (cause of Peptic ulcers) & resist. to
fluoroqui/clarithrom)
PCR for Chlamydia trachomatis (urethritis/cervicitis)
PCR for Bordetella pertussis and B. parapertussis
PCR for EHEC (Enterohaemorrhagic E. coli)
PCR for VRE (Vancomycin-resistant enterococci)
PCR for 11 Periodontopathogenic bacteria that fail Dental implants
Human DNA/Genetic testing
DNA Paternity Testing
Forensic DNA Testing
Definitive HLA-B27 gene detection for diagnosis of Ankylosing
spondylitis
Diagnosis of Primary lactose (milk) intolerance
Diagnosis of Hereditary Haemochromatosis - excess iron
absorption)
Detection of Mutations in Factor V Leiden, prothrombin G20210A
& MTHFR genes ( venous thromboses risk)
Detection of Two polymorphisms in PAI-1 gene (to assess risk of
Vascular thrombosis)
Detection of three alleles of the human ApoE gene (to asses risk of
type III hyperlipoproteinaemia & coronary heart disease risk)
Sample to send
Dry blood spot or EDTA/Citrate blood
EDTA/Citrate blood (Purple top)
EDTA/Citrate blood (Purple top)
Induced sputum/BAL
AFB neg suspicious sputum/other samples
Liquid or solid MTB culture
Liquid or solid culture
AFB pos sputum, Liquid /solid cultures
AFB+ve sputum or Liquid/solid culture
Swab(nose/throat/skin/wounds),
Patient specimens or Cultured S. aureus
Gastric Biopsy (Send patient to Lab)
1st void Urine or Urethral/Cervical swab
Nasopharyngeal swabs
Stool samples or E. coli cultures
Patient samples or isolates of Enterococci
Sub gingival samples
Sample to send
Saliva (Father & Child comes to Lab)
Any recovered human samples
EDTA/Citrate blood (Purple top)
EDTA/Citrate blood (Purple top)
EDTA/Citrate blood (Purple top)
EDTA/Citrate blood (Purple top)
EDTA/Citrate blood (Purple top)
EDTA/Citrate blood (Purple top)
C. HAEMATOLGY TESTS
We also do haematology tests, making our a one stop centre for clinical Laboratory testing
Table 4. Some of the hematology tests at MBN Lab
Tick
Test
HB, ESR, WBC count,- T&D Platelets, Reticulocytes, PCV, MCV,
MCHC
Coombs test, direct and indirect
Sickling Test
HB Electrophoresis
Bleeding & clotting time
Prothrombin time (PT or INR)
Partial thromboplastin time (PTT or aPTT )
Bone marrow - Film comment
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Sample to send
4 ml EDTA blood (Purple top)
2 ml EDTA blood (Purple top) & 2mls in
red top
2 ml EDTA blood (Purple top)
4 ml EDTA blood (Purple top)
Patient comes to MBN Clinical Lab
4 ml blood - oxalate/citrate vacutainer
4 mls blood - oxalate/citrate vacutainer
Send slide
D. CHEMISTRY TESTS:
Just as haematology, our clinical chemistry laboratory services enable you to visit MBN and have all
your medical test needs in one house.
Table 5. Some of the Chemistry tests at MBN Lab
Tick
Tests
Random Blood sugar
Fasting Blood sugar
Renal Function Tests (RFT): Na, K, Cl, Creatinine, Urea
Liver Function Tests (LFTs): Total protein, Albumin, Alkaline
Phosphatase, Bilirubin (Total and direct), ALT (GPT), AST (GOT),
GGT (gamma-GT).
Pancreatic Function tests: Se Amylase, Urine amylase, Lipase
Calcium
Uric acid
Thyroid Function Tests: TSH, FT3 (free Triiodotyronine), FT4 (free
Thyroxine)
Lipid profile: Cholesterol, HDL, LDL, Triglycerides
PSA (Prostatic Specific Antigen)
Tumor markers: AFP Alpha-Fetoprotein, CA125, CEA (Carcinoembryonic Antigen),
Hormone assays (Write here):
Other Chemistries (write here):
Sample to send
2ml blood in Fluoride bottle or
Patient comes to lab
2ml blood in Fluoride bottle or
Patient comes to lab
Serum (2-4ml blood in red top
Vacutainer)
Ser um (2-4ml blood in red top
Vacutainer)
Serum (2-4ml blood in red top
Vacutainer)
Serum (2-4ml blood in red top
Vacutainer)
Serum (2-4ml blood in red top
Vacutainer)
Serum (2-4ml blood in red top
Vacutainer)
Serum (2-4ml blood in red top
Vacutainer)
Serum (2-4ml blood in red top
Vacutainer)
Serum (2-4ml blood in red top
Vacutainer)
Serum (2-4ml blood in red top
Vacutainer)
Serum (2-4ml blood in red top
Vacutainer)
E. PRICE INFORMATION
All tests at MBN Clinical Laboratories are offered at very reasonable prices to balance quality
and costs. We don’t aim at extortion, but quality, so we charge only what is adequate to maintain
the services. For example most cultures are charged between UGX 25,000/= and 35, 000/=.
For exact prices per test, contact us:
MBN Clinical Laboratory
Plot 28 Nakasero Road, opposite Multiplex/AMREF and between Medical Access and Synovate
Phone: 0414 533 951 / 0702 739 545
email: [email protected]
Website: www.mbnlab.com
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