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Volume 1
Nucleic Acid Testing (NAT)
Page 3
Food Intolerance and
Food Sensitivity
Page 11
Inborn Errors of
Metabolism
Page 15
Help prevent thalassemia
- Jago re...
Page 23
Lab Communique
1
From the
Editor’s Desk
It is my pleasure to
present this very
Contents
2 Editor’s Desk
3 Nucleic Acid Testing (NAT)
Dr. Anand Deshpande
11 Food Intolerance and Food Sensitivity
Dr. Vipla Puri
15 Inborn Errors of Metabolism
Dr. Tester F. Ashavaid
first edition of our
Lab Communique.
21 Funded Research / Projects in the
Department of Laboratory Medicine
It was a long-felt
need to present the
current, new and
23 Help prevent thalassemia - Jago re...
Dr. Sharmila Ghosh
research activities of
the Hinduja Hospital
Important Lab Numbers
Laboratory Medicine department, which
has the unique distinction of being the 1
st
hospital laboratory in Asia to be accredited
Department Of Laboratory Medicine...............
Location- Jamuna Clinic (Hinduja Clinic)
to the College of American Pathologists
Stat Lab – Reception..............................2444 7327
since 2006.
Stat Lab – Biochemistry..........................2444 7328
Blood Bank.............................................2444 7308
This initiative will serve the need of
increasing awareness about a qualityconscious hospital-based Laboratory`s
core testing practices,areas of research
Donor Room..........................................2444 7306
Ground Floor
O.P.D. Blood Collection..........................2444 7079
Location - Lalita Girdhar Building (S1 Bldg)
Biochemistry Lab................................. 2444 7935/
interest and available facilities for
. ....................................................2444 7931
Postgraduates,General practitioners and
Hematology Lab.....................................2444 7947
Specialists.
RIA Lab.................................................2444 7948
Microbiology/Serology Lab.................. 2444 7793/
In this issue, some of the Laboratory
Consultants have put together the need
for awareness of newer technologies in the
laboratory setup with an emphasis on the
approach to some common disorders. We
hope this will serve to keep you abreast
with modern-day Laboratory practices.
. ....................................................2444 7794
Histopathology /
Cytopathology Lab................................2444 7797
NAT Lab............................................... 2444 7610/
. ....................................................2444 7611
Home Collection Service.................3981 8181/
. .................................................. 6766 8181
Hinduja Poison Center..................... 2446 4600
Lab Medicine Fax Number................ 2444 2318
Assistant Manager - Diagnostics Services
Dr. Preeti Goraksha................................2444 7942
Quality Co-ordinator..........................2444 7943
Chetna Patil...........................................2444 7943
Dr Anita S. Bhaduri, M.D.
Surgical Pathologist
2
Vol 1
Ext 7143
Produced at the marketing cell of Hinduja Hospital. For
feedback and comments write to [email protected]
Nucleic Acid Testing (NAT)
- Adding a layer of safety
in blood transfusion
Blood
Dr. Anand Deshpande
M.D.
transfusion
provides
an
antibodies are produced for the
essential and life-saving support
laboratory to detect, is called the
in modern healthcare. When used
‘seroconversion
correctly it can save lives. However,
‘window period’. In some cases
it can cause acute or delayed
such as HCV it could be as high as
complications and also carries the
60 days or more. In addition, the
risk of Transfusion Transmitted
EIA screening has a very high rate
Infections (TTIs) such as HIV, HBV,
of false positives that unfortunately
HCV and other diseases.
results in perfectly healthy donors
window’
or
being labelled as “positive”. Hence,
The five tests mandatory by Food
in these techniques, test specificity
& Drugs Administration (FDA) for
is sacrificed somewhat to gain
donated blood units are HBsAg,
more sensitivity.
HIV
Ab,
HCV
Ab,
VDRL
and
Malarial parasites. Current testing
Over two billion people worldwide
methods carried out in India are
are infected with HBV, which is
based on the principle of enzyme
the leading cause of liver disease.
immunoassay
based
Of these, more than 350 million
blood
(EIA).
screening
EIA-
detect
are chronically infected, with a
virus-induced antibodies or viral
tests
higher risk for liver cancer and
antigens, not the virus itself. The
liver cirrhosis. Currently available
main problem is that the body takes
screening
some time to produce detectable
designed to detect core antibodies
amount of antibodies that can be
or
detected by these methods. This
these infection indicators do not
period from the time someone is
appear until upto eight weeks after
infected to the time that enough
an infection. Thus HBV presents a
surface
technologies
antigens.
are
However,
Figure 1: Window period reduction by NAT
Dr. A. Deshpande, Consultant Transfusion Medicine & Hematology, MD – Pathology
E-Mail - [email protected] Contact No.: 24451515 Ext 8307/8308
Lab Communique
3
Countries like
higher residual risk of transmission
The greatest threat to the safety
by transfusion than HCV or HIV and
of blood supply is donation by
the HBV infection window period
‘seronegative’
is the real issue in the transfusion
‘window period’ of initial infection
setting. Countries like India with
and
have the highest
a high prevalence of HBV have
Window period samples have low
the highest risk of transfusion
viral load. Detection of very low
risk of transfusion
transmitted
viral load samples requires highly
transmitted HBV
HBV NAT. In addition, worldwide
India with a high
prevalence of HBV
and probably would
be the most to gain
from HBV NAT.
HBV
and
probably
would be the most to gain from
detectable
Vol 1
during
seroconversion.
sensitive assays.
170 million people are infected
Hence the Nucleic Acid
with HCV and 40 million with HIV.
Amplification Testing (NAT)….!
These are a serious global concern.
With NAT the window period is
Blood is processed into blood
shortened considerably, as it is a
components to enable more than
highly sensitive and specific test
one patient to benefit from a single
that detects very low levels of viral
donation. Thus a single unit of
RNA or DNA that may be present in
blood collected from a donor in the
donated blood. With the use of NAT
window period of infection may be
systems, the ‘window period’ for
transfused in upto four recipients
detection of HIV is reduced from
or may be added to pools of more
20.3 days to 5.6 days, for HCV it
than 1,000 units to manufacture
is reduced from 58.3 days to 4.9
blood -derived products.
days and for HBV from 53.3 days
Fig 2: Pre-Amplification Area - NAT Laboratory, PDHNH
4
donors
Nucleic acid
Amplification
Testing (NAT) is
to 35.4 days.
of
infectious
microorganism
in
donor blood by amplifying the
NAT is being effectively utilized in
nucleic acid sequences specific
Australia, Indonesia, HongKong,
to the microorganism,.giving it
Korea,
Malaysia,
New
Zealand,
a much higher level of sensitivity
Thailand,
a highly sensitive
Singapore,
Japan,
and specificity than routine EIA
Europe, Middle East, Africa, France,
test. Thus the power of NAT
method of testing
Germany,
Spain,
lies in its ability to detect viral
Switzerland, UK, America, Brazil,
genomic nucleic acids rather than
blood that is used
Carribean, Canada and a host of
the presence of antibodies. NAT is
to detect Hepatitis
other nations. A look at the NAT
used in addition to the antibody
experience of various countries
test since in some individuals
shows that every country has
theoretically the amount of virus
benefitted from this technology.
may have fallen below detectable
C, HIV and HBV
virus.
Israel,
Italy,
limits and antibodies could still be
What is Nucleic acid amplification
detectable.
testing (NAT) and how does it work?
Nucleic acid Amplification Testing
The NAT used in our institution
(NAT) is a highly sensitive method
utilizes target amplification nucleic
of testing blood that is used to
acid probe technology for the
detect Hepatitis C, HIV and HBV
detection of HIV-1 RNA, HCV RNA,
virus. NAT is a direct test which
and HBV DNA. The assay contains
detects the viral DNA or RNA.
reagents which may be used for
It
period
simultaneous detection of three
by detecting low levels of viral
reduces
the
window
viruses or the individual viruses
genomic materials that are present
HIV-1,
soon after infection but before the
assay).
HCV,
and
HBV
(Triplex
body starts producing antibodies
in response to a virus.
The TMA assay involves three main
steps (i) target capture based sample
Genomic screening for infectious
preparation,
agents using NAT is performed
mediated amplification, and (iii)
with
several
hybridization
acid
amplification
techniques,
all performed in a single tube.
e.g.
Transcription
–mediated
All three assays incorporate an
amplification (TMA), Polymerase
internal control to validate each
chain reaction (PCR) ligase chain
reaction.
in-vitro
nucleic
(ii)
transcription-
protection
assay,
reaction and nucleic acid sequence
–based
amplification.
All
these
During sample preparation, viral
techniques detect the presence
RNA and DNA are isolated from
Lab Communique
5
The TMA assay
specimens via the use of target
the amplicons. During the detection
capture. Oligonucleotides that are
steps the chemiluminescent signal
homologous to highly conserved
produced by the hybridized probe
regions of HIV-1, HCV and HBV
is measured in a luminometer and
if present in the test specimen
is reported as Relative Light Units
capture based
are hybridized to the HIV-1 RNA,
(RLU).
sample preparation,
hybridized target is then captured
The assay differentiates between
onto
the internal control and combined
(ii) transcription-
that are then separated from the
HIV-1/HCV/HBV
specimen in a magnetic field.
does not discriminate between
involves three main
steps (i) target
mediated
amplification, and
(iii) hybridization
protection assay,
HCV RNA or HBV DNA target. The
magnetic
microparticles
but
individual HIV-1, HCV and HBV
Target amplification occurs via
signals. Samples found reactive
TMA, which is a transcription-
in the Ultrio test are later retested
based nucleic acid amplification
for HIV-1, HCV and HBV using
method that utilizes two enzymes.
discriminatory assays.
Detection
by
Impact of NAT: A pilot project
Assay
in India at Apollo Indraprastha
is
achieved
all performed in a
Hybridization
(HPA) using single-stranded nucleic
Hospital,
single tube.
acid probes with chemiluminescent
12,224 study samples 133 (1.09%)
labels that are complementary to
were reactive by Ultrio Assay. 84
Protection
Fig 3: Post Amplification Area – NAT Laboratory, HH
6
signals
Vol 1
showed
that
out
of
Blood safety has
samples were seroreactive but
the donors were screened for
been an integral part
NAT non reactive. There were 8
only syphilis and hepatitis B virus
NAT yield cases – 1 HIV, 1 HIV-HCV
before 1985. Now a series of
coinfection and 6HBV. Observed
specific and non specific measures
NAT yield for all three cases was 1
are being introduced into the
at our transfusion
in 1528 (0.065%). Similar studies
screening of blood donations in
in
have
also
order to reduce the residual risk
service. Our mission
demonstrated high yields.
The
of bloodborne viruses. The latest
potential for NAT yield in India is
measure has been viral nucleic
is to provide safe
staggering given the prevalence
acid detection.
and high quality
5.7 million with HIV, 12 million
of the quality system
blood and blood
other
countries
of these viruses in the population
with HCV, and 40 million with
HBV (10 per cent of the world’s
components to all
HBV infected population) when
patients requiring
have
transfusion.
suggested that the NAT yield for
compared to other countries that
already
implemented
the
technology. Data from this study
all three viruses in India could be
29 times higher than that observed
in Japan, and even higher for HIV-1
alone. In addition, India has a high
percentage of replacement blood
donors who are associated with
higher infection rates compared to
volunteer donors.
Our goal: To reach zero risk blood
supply
We have come a long way in that
Given
the
high
seropositivity
rate of HIV, HBV & HCV in India
and keeping in mind the high
percentage of first time donors
and replacement donors, it is likely
that adding NAT to the current
screening test, will have significant
reduction in TTI, making our blood
safer.
Blood safety has been an integral
part of the quality system at our
transfusion service. Our mission
is to provide safe and high quality
blood and blood components to
all patients requiring transfusion.
Implementation of NAT screening
of
all
blood
donations
in
Hinduja Hospital since March 2009
is another step towards ensuring
safe & effective transfusions.
Lab Communique
7
Achievements
DR. ANAND DESHPANDE
MD, Consultant, Transfusion Medicine & Hematology
• Postgraduate in Pathology from Nagpur University.
• Senior residency in Haematology at P G I, Chandigarh.
• Has been trained in peripheral blood stem cell transplant at University of
Minnesota, Minneapolis USA.
• Recipient of prestigious BGRC oration of Mumbai Hematology Group
(MHG) in 2007.
• Scientific Advisory committee member (SAC) National Institute of
Immunohematology, ICMR, Mumbai.
• Has set up Nucleic Acid Amplification Testing (NAT) laboratory at Hinduja
Hospital for screening donors’ blood units. This is the first laboratory in
entire Maharashtra.
• Has been instrumental in setting up HLA laboratory at Hinduja Hospital,
which is now carrying out tissue typing using molecular technique.
• Has set up many Therapeutic apheresis procedures at Hinduja
Hospital including Therapeutic Plasma Exchange (TPE) & Therapeutic
Erythrocytapheresis (TEA). This is one of the first centres to carry out
TEA in India.
• Has also indroduced unexpected Red Blood Cell antibody screening of
the patients. This is one of the first centres in Mumbai to introduce the
technique.
• Has received many awards including Best Paper award in National
conferences & Dr. H. M. Bhatia award, Dr. L. D. Sanghvi award (twice),
Dr. Hiranandani & Dr. A. J. Desai award (twice) of Mumbai Hematology
Group.
• Has delivered a large number of scientific lectures in various CMEs &
Conferences.
• Has organized CME in 2006 & 2008 – “Transfusion & Beyond” at Hinduja
hospital which we are planning every alternate year.
• Ongoing projects :- * Autoimmune hepatitis.
• Occult Hepatitis B & Hepatitis G Virus infections.
E-mail: [email protected]. Contact No.: 24451515 Ext 8307/8308
8
Vol 1
Symposium on Advanced
Clinical Applications in
Flow cytometry
In India, current use of flow cytometry in a clinical setting has largely centered
on CD4 counts, HLA-B27 analysis, and leukemia immunophenotyping. There
has been a growing interest in extending the use of this tool to study PNH,
flow cytometry cross-match, platelet function disorders, RBC disorders,
multiple myeloma, solid tumors, body fluid analysis etc. However, limited
familiarity with standardized protocols and nuances of analysis is a gap that
has impeded routine usage of these assays for patient care.
Dr. Shanaz Khodaiji
It is to bridge this gap a two-day Symposium on “Advanced Clinical
Applications of Flow Cytometry” was held on February 25th & 26th, 2009
at Hinduja Hospital, Mumbai. The Symposium was organized by the
department of Hematology and was attended by 124 participants. The
teaching program was focused primarily on the needs of existing flow
cytometry users. It provided an opportunity to new enthusiasts of the
technology and physicians to get sensitized to the wide applications of flow
cytometry.
A number of eminent international and national speakers gave talks in their
area of expertise.
• The keynote lecture was delivered by Dr.Attila Tarnok, Editor-in-chief,
“Cytometry Part A” University of Leipzig, Germany who spoke on How to
present flow cytometry data and Pediatric cell immunity.
• Dr.Edna D’souza from NIIH, Mumbai spoke on Flow sorting for antenatal
diagnosis
• Dr.Amar Dasgupta, COO,Religare Super, Mumbai and Dr.Renu Saxena,
Head, Dept of Hematology from AIIMS, New Delhi discussed use of flow
cytometry in bleeding and platelet function disorders.
• Dr.Manisha Madkaikar and Dr.Prabhakar Kedar from NIIH, Mumbai
presented their work on PNH and RBC membrane disorder respectively.
• Transplant flow cytometry, an important emerging application of flow
cytometry was covered by Dr.N.K.Mehra, from AIIMS, New Delhi who
spoke on flow cytometry crossmatch and Dr.Paresh Jain, Scientific
advisor, BD Bioscience, who spoke on Absolute CD34 stem cell counting.
• Presentations in Oncology were made by Dr.Sujata Iyer, from BD
Biosciences, USA who spoke on BCR-ABL fusion protein detection,
Dr. Shanaz Khodaiji - Consultant Hemotology, M.D. (Path & Micro), D.C.P.
E-Mail - [email protected]. Contact No. 24451515 Extn – 7144
Hinduja
Lab
Lab
Communique
Newsletter
9
Dr.Avtar Krishnan from University of Miami, Florid, USA, who spoke on
Flow Immunocytochemistry of body fluids and Dr.Suchitra Swaminathan
from NIIH, Mumbai, spoke on Signal transduction studies in AML.
• Some miscellaneous topics were discussed by Dr.Manisha Madkaikar
who spoke on Flow cytometry in diagnosis of primary immunodeficiency
disorders,
Dr.Sandeep
Shah,
from
Ahmedabad
who
spoke
on
Accreditation of a flow cytometry lab and Dr.Tina Dadu, from B..L.Kapoor
Hospital, New Delhi who presented her experience on Flow cytometry of
lymphnodes specimen.
This symposium was a first of its kind as it covered newer clinical applications
in flow cytometry and thus expanded the horizon for flow cytometry users
in India. The delegates were extremely happy with the scientific content as
well as the hospitality displayed by our hospital which went a long way in
making it a grand success.
10
Vol 1
Food Intolerance and Food
Sensitivity
Bringing innovation at Hinduja
react to chemicals found naturally
We are the first hospital based lab
in foods. For example: Some people
to start food intolerance test called
get headache after eating a certain
‘Genarray’ based on Microarray
type of cheese and other foods
Technology.
technology
containing tyramine. Psychological
originally invented for studying
factors play a significant role in
DNA
food intolerance.
and
The
gene
expression
is
now being exploited to practical
Dr. Vipla Puri
Ph.D.
diagnostic tests for early detection
Carbohydrate
intolerance:
of food intolerances by measuring
Sucrose,
milk,
food specific IgG levels in blood.
lactose, or glucose are problems
With the imminent availability of
for
the sensitive technology in our
these
hospital we can now diagnose food
carbohydrates furnish most of the
intolerance to 200 specific foods
energy needed in a healthy diet.
fructose,
many
sugar,
people
digesting
compounds
although
in patients presenting with various
symptoms from general lethary,
Celiac disease: This disorder is
weight gain, dermatitis, arthritis to
caused by an intolerance to gluten,
irritable bowel syndrome.
the protein found in wheat and
other grains. In celiac disease, the
intolerance
cells lining the small intestine are
Food allergies and food intolerances
damaged and prevent the normal
overlap
What
is
food
considerably.Intolerances
absorption of food constituents,
are negative reactions to food
particularly fats. Celiac disease
that do not involve the immune
involves an immune response but
system, such as lactose intolerance
does not involve IgE, an antibody
or
intolerance
responsible for allergic reaction.
is an exaggerated or abnormal
Common symptoms are bloating
physical reaction to a food or food
and gas.
sensitivity.
Food
additive caused by some chemical
or enzyme deficiency in the body.
Toxicological
food
reactions
and
Foods
may
poisoning:
intolerance
contain toxins that are naturally
Several factors may cause a person
part of the food or that were added
to have an adverse reaction to food.
by mistake during manufacturing,
Sometimes a person’s body will
shipping or handling. For instance,
Causes
of
food
Dr. Vipla Puri, Consultant Radioimmunoassay, Ph.D - Consultant RIA Laboratory
Email: [email protected] Contact No. 24451515 Extn - 7148/7149
Lab Communique
11
Foods may
contain toxins
that are naturally
part of the food or
that were added
by mistake during
manufacturing,
shipping or
handling. For
certain fish like tuna or mackerel
Gastro
contain
colic
which
histadine
converted
to
histamine
is
with
Infantile
or
colitis,Crohn’s
disease,
recurrent abdominal pain, diarrhea,
improper storage and if consumed
constipation,
can cause adverse reactions.
syndrome.
Food poisoning, on the other hand,
results
from
contamination
of
food with bacteria or other micro
organisms.
Symptoms may include vomiting,
diarrhea,
dehydration
and
unconsciousness.
produce
bowel
Skin: Eczema, Urticaria.
Nervous
Headache,
System:
migraine, hyperactivity.
Heart: Palpitations.
Musculo skeletal: Unexplained
joint pain, some kinds of arthritis,
Pharmacological effects: Some
foods
irritable
symptoms
that
unexplained muscle pain.
Somatisation
Psychiatric:
disorder, fatigue, hypersomnia.
instance, certain fish
resemble reaction to drugs. For
like tuna or mackerel
tea and other products may cause
contain histadine
and other effects.
which is converted
Psychological
to histamine with
Psychological factors play a role in
abdominal pain along with muscle
food intolerance, causing people to
and joint pain.
react to a particular food because of
Food intolerance – The common
improper storage
and if consumed
can cause adverse
reactions.
example, caffeine found in coffee,
a rapid heartbeat, sleeplessness
reactions:
smell, presentation and memories.
Symptoms of food intolerance
Food
intolerance
can
surprisingly
wide
symptoms.
However,
cause
variety
a
of
certain
features concerning the timing
helpful when trying to identify
possible causes. Symptoms are
usually multiple, caused or made
worse by food intolerance.
Respiratory:
glue ear.
Vol 1
In practice, when food intolerance
is involved, such conditions rarely
exist alone, for example, a typical
sufferer
and occurrence of symptoms are
12
intestinal:
–
Asthma,
may
unexplained
have
migraine,
fatigue,
bloating,
culprits
The foods that tend to cause
intolerance reactions in sensitive
people include:
• Dairy products, including milk,
cheese and yogurt.
• Chocolate.
• Egg – particularly egg white.
• Flavour enhancers such as MSG
(Monosodium glutamate)
• Food additives.
• Strawberries,
rhinitis,
citrus
fruits,
tomatoes.
• Wine – particularly red wine.
Adults may
somestimes be able
to tolerate small
amount of offending
foods, but should
What is the treatment
Once
the
offending
rice milk or hypo allergenic milk
food
is
formula instead of cow’s milk.
identified by high levels of IgG
technology,
Adults may sometimes be able to
food intolerance can be managed by
tolerate small amount of offending
cutting the food out of one’s diet For
foods, but should experiment to
example : Babies or children with
work out alternative suitable diet
a lactose intolerance can be given
to avoid symptoms and nutrient
alternative soya milk, almond milk,
deficiencies.
using
this
sensitive
experiment to work
out alternative
suitable diet to avoid
symptoms
and nutrient
deficiencies.
Achievements
Dr. Vipla Puri
Ph.D - Consultant RIA Laboratory
• Awarded WHO fellowship to work as a visiting scientist at Karolinska
Hospital, Stockholm, Sweden and at the Department of Biochemistry,
University of Paris, Bicetre.
• Invited by UNDP / UNFPA / WHO / World Bank Special Programme of
Research, Development and Research Training in Human Reproduction,
Geneva as Advisor and Member of Task Force on Laboratory Methods.
• Visiting Research Assistant Professor, Department of Obstetrics and
Gynaecology, Washington University School of Medicine, St Louis, MO,
USA.
• Invited to review multicentre trial results on “Screening for Pre-eclampsia;
evaluation of predictive abilities of angiogenic factors for pre-eclampsia.
WHO – Geneva
• Recipient of ICMR – Research Grant to work on Foam Cell Formation in
Leprosy.
• Recognised Research Guide University of Mumbai.
• Received best paper award for my work on Hyperhomocystenemia an
independent risk factor for Osteoporosis in men.
• Developed and Standardized 3 new assays for the diagnosis of Movement
Disorders, Pure Red Cell Aplasia and Multiple Sclerosis. Relevant
documents for filing ‘PATENT’ have been submitted.
• Established newer technologies of Microarray to diagnose Food
Intolerance and Chemiluminescence to diagnose various allergies.
Email: [email protected]. Contact No. 24451515 Extn - 7148/7149
Lab Communique
13
Quiz
Q1. The diagnosis of Clostridium difficile infection is made by
a. A positive stool culture for Clostridium difficile
b. Presence of antibodies in blood to Clostridium difficile
c. Detection of Clostridium difficile toxin in faeces
d. All of the above
Q2. The following helps to reduce antimicrobial resistance
Dr. Anjali Shetty
MRCP, FRCPath
a. Once started one must complete at least a 5 day course of antibiotics
b. Using lower doses of antibiotics for prolonged periods
c. Using a combination of antibiotics to treat all infections
d. None of the above
Q3. The following statement is true
a. Blood cultures should be collected when the pt spikes a fever
b. Blood cultures should be collected after the patient spikes a fever
c. Blood cultures should be collected before the pt spikes a fever
d. Timing of blood culture collection need not coincide with fever
spikes
Q4. The urine sample sent to diagnose Schistoma hematobium
should be
a. Early morning sample
b. Mid-stream sample
c. Terminal urine sample
d. Any of the above
Q5. A patient presents with fever of 1 day, mild rash, severe back
pain. The platelets are 90,000, WBC is 2,200, L-75, N-20, M-4,
and E-1. The preferred test for Dengue is?
a. Dengue IgM
b. NS1 antigen
Q5 b
Q4 c
c. Dengue IgG
Q2 d
Q1 c
d. Total IgM
Q3 d
Answers
Dr. Anjali Shetty MRCP, FRCPath, Consultant Microbiology
Email: [email protected]. Contact No. : 24451515 Ext 7156
14
Vol 1
Inborn Errors of
Metabolism
Inborn Errors of Metabolism (IEM)
be eliminated by early diagnosis.
are a heterogeneous group of
However
disorders caused due to single
investigations
gene defect which may manifest
screening tests are insufficient to
immediately after birth, or within
confirm the diagnosis.
routine
laboratory
and
qualitative
few days or weeks after birth.
Dr. Ashavaid, T.F.
Ph.D, FACB, CSi,
PGDBA (Fin).
In recent decades hundreds of
Disorders of amino acid metabolism
new inborn errors of metabolism
result from defects either in the
have been discovered. Some of
synthesis of or breakdown of amino
the major classes of inborn errors
acids, or in the body’s ability to
of
disorders
get the amino acids into the cells.
metabolism
are
metabolism
We at Hinduja Hospital, perform
(e.g. Glycogen storage disease),
quantitation of amino acids from
amino
plasma,
of
carbohydrate
acid
metabolism
(e.g.
urine
&
cerebrospinal
Phenylketonuria, Maple Syrup Urine
fluid (CSF) by High Performance
Disease, Glutaric acidemia type –
Liquid Chromatography (HPLC).The
1)
organic acid metabolism (e.g.
aminoacidogram obtained is then
Alkaptonuria), fatty acid oxidation
correlated with the case history of
&
the patient in order to rule out any
(e.g.
2),
mitochondrial
Glutaric
metabolism
Acidemia
peroxisomal
type
function
–
(e.g.
metabolic disorder. An HPLC system
offers
accurate
&
reproducible
Zellweger Syndrome), Lysosomal
results, along with high resolution,
Storage Disorders (e.g. Gaucher’s
precision and sensitivity. Keeping
Disease, Niemann Pick Disease) ,
into consideration our patient’s
purine or pyrimidine metabolism
convenience,
(e.g.
HPLC packages for amino acid
Lesch-Nyhan
Syndrome),
steroid metabolism (e.g. Congenital
we
offer
various
analysis. These include:
adrenal hyperplasia) mitochondrial
function
(e.g.
Kearns-Sayre
Syndrome).
1. Plasma Amino Acid Analysis,
Urinary Amino Acid Analysis,
CSF
Amino
Acid
Analysis:
All of us need to be aware that
Analysis
apparently every healthy newborn
various
has a significant risk of being
such as plasma, urine and CSF
maimed or killed by an inborn
is a valuable diagnostic tool &
error of metabolism which can
is central to the investigation of
of
amino
physiological
acids
in
samples
Dr. Tester F. Ashavaid, Consultant Biochemistry, Head, Department of Laboratory Medicine, Joint
Director - Research., Ph.D, FACB, CSi, PGDBA (Fin). Email: [email protected]
Contact No. 24451515 Extn - 7135 / 7136
Lab Communique
15
Quantitative
amino acid analysis
by HPLC provides
confirmation of
possible neurometabolic disorder.
Phenylketonuria is a rare genetic
Quantitative amino acid analysis
disorder caused by the buildup
by HPLC provides confirmation of
of excess phenylalanine in the
the identity and concentration of
blood. The metabolic pathway in
amino acids by providing accurate
Phenylketonuria is the conversion
information
of
on
the
levels
of
phenylalanine
into
another
amino acids that may be present
amino
the identity and
in subnormal concentrations.The
pathway is affected due to the
presence of characteristic pattern
deficiency of enzyme phenylalanine
concentration of
of elevated amino acids is very
hydrolase. The body needs both
amino acids by
useful in diagnosis of these rare
phenylalanine as well as tyrosine
disorders.
to make three neurotransmitters
providing accurate
information on
–
acid,
tyrosine
epinephrine,
and
this
dopamine
&
shortage
of
2. Tyrosinemia package: The
norepinephrine.
amino acids reported in this package
either of the two amino acids could
are
Plasma tyrosine, Urinary
leave the patient vulnerable to host
the levels of amino
tyrosine & Urine Nitrosonaphthol
of mental disorders, anxiety or
test
chronic fatigue.
acids that may be
a genetic disorder characterized
present in
by elevated blood levels of amino
4.
acid tyrosine. There are three
package:
The
types of Tyrosinemia­ Tyrosinemia
reported
in
– I, Tyrosinemia – II, Tyrosinemia
are
¬– III. The body needs adequate
Methionine, Serum Homocysteine
supplies
&
subnormal
concentrations.
-
A
(Qualitative).Tyrosinemia
of
tyrosine
to
is
make
Sulphur
-
Plasma
Urine
Amino
Acids
amino
this
acids
package
Cystine,
Plasma
Homocysteine.The
many important brain chemicals
amino acids Cystine, Methionine
that
and
helps
regulate
appetite,
Homocysteine
are
sulphur
pain sensitivity, body’s response
containing
to
functioning
the metabolism of all these are
of thyroid, pituitary & adrenal
closely related. Both methionine
glands, Low levels of tyrosine
and cystine are required for the
may lead to hypothyroidism, low
production of the body’s most
blood pressure, chronic fatigue &
abundant
sluggish metabolism.
glutathione, which helps neutralize
stress,
normal
amino
natural
acids
and
antioxidant,
toxins in the liver.
3.
Phenylketonuria
(PKU)
The
acids
Recent studies have suggested
reported in this package are –
that people who have elevated
Plasma
Plasma
homocysteine levels have a much
Tyrosine & FeCl3 test (Qualitative).
greater risk of heart attack or
package:
16
Vol 1
amino
Phenylalanine,
Recent studies
have suggested
that people who
have elevated
homocysteine levels
stoke than those with average
Tyrosinemia type – 2 disorder,
levels. Vitamin B6, B12 and folate
was suffering from watering of
are
metabolize
eyes, epithelial haze, multiple, fine
homocysteine and the patients
pin point , dot shaped infiltrates
who are deficient in these vitamins
on corneas. On quantification by
may
HPLC tyrosine levels were found
necessary
have
to
increased
levels
of
homocysteine.
to be elevated [162 nmoles/ml -
5. Non Ketotic Hyperglycinaemia
have a much greater
(NKH) package: The amino acids
risk of heart attack
Plasma Glycine, CSF Glycine and
or stoke than
Glycine.It is an autosomal recessive
those with average
levels.
reported in this package are ratio of CSF Glycine to Plasma
inborn error of glycine metabolism.
Being a glucogenic amino acid, it
helps in supplying the body with
glucose needed for energy, thereby
regulating blood sugar levels.
package:
The
amino
acids reported in this package are
- Plasma Leucine, Plasma Isoleucine
and Plasma Valine. It is caused due
to deficiency of branched chain
alpha
keto
acid
dehydrogenase
complex (BCKDH). This disease is
characterized in an infant by the
presence of sweet smelling urine,
with an odor similar to that of maple
syrup. Keeping MSUD under control
requires
careful
monitoring
of
blood chemistry and involves both
a special diet & frequent testing.
Saving
Studies
ml].The child was then treated with
Tyrex – 2 powder (phenylalanine &
tyrosine free) along with other diet
as prescribed by the dietician. On
follow up the blood tyrosine levels
were found to be still elevated but
compared
to
previous
reports,
they were low [128 nmoles/ml].
The patient was continued with the
same diet and on follow up, the
tyrosine levels are now found to
6. Maple Syrup Urine Disease
(MSUD)
reference range: 24 – 115 nmoles/
Lives:………Case
be normal.
Case 2:
A 3 year old female
presented with known case of
Phenylketonuria, had history of
developmental delay. She was on
restricted diet and on quantitation
by HPLC the phenylalanine levels
were found to be normal. Later
on she had difficulty in walking
& talking. Eczema & skin rashes
developed all over her body, also
her hair color got changed from
black to golden .On quantitation
the
phenylalanine
levels
were
found to be elevated [994 nmoles/
ml - Reference range: 26 – 91
nmoles/ml, due to improper diet.
She was then asked to follow the
male
diet strictly. On follow up, amino
child presented with history of
acid quantitation showed decrease
Case
1:
A
3
year
old
Lab Communique
17
The hidden
impairments
in phenylanine levels.
susceptibility to occlusive arterial
disease
and
many
inherent
Case 3: An 18 days old male child,
disorders in amino acid metabolism.
suffering from severe acidosis was
The hidden impairments in amino
admitted to hospital on day 3 of
acid metabolism are problematic
life. Blood gas analysis show severe
& often go undiagnosed which
metabolic acidosis & his respiratory
may or may not be expressed
problematic & often
rate was increased. Blood ammonia
as specific symptoms. They may
levels
urinary
silently increase the susceptibility
go undiagnosed
Methylmalonic Acid was positive.
to a degenerative disease or they
which may or may
Hence the clinician was suspecting
may be associated with, but not
Methylmalonic
in amino acid
metabolism are
were
elevated,
(MMA)
causative for, a disease. Hence
which is a disorder of amino acid
quantitative amino acid analysis
metabolism involving defect in
by HPLC is necessary in timely
specific symptoms.
conversion of methylmalonyl CoA
diagnosis
to succinyl CoA and this conversion
metabolism and helps in thorough
They may silently
takes place in presence of vitamin
nutritional and metabolic workup.
increase the
isoleucine, valine, methionine &
Thus, Amino acid analysis by HPLC
susceptibility to a
threonine were low and the levels
is adequate to suggest the diagnosis
of tyrosine, leucine & phenylalanine
of inborn errors of metabolism, due
were elevated because patients
to marked increase in the levels of
with MMA have problems breaking
amino acids in plasma, urine or
or they may be
down & using certain amino and
CSF, thereby helping the clinicians
fatty acids from food they eat. A
to promptly initiate appropriate
associated with, but
specific diet was prescribed. On
therapy for the patient. Hence there
follow up after 4 months all the
is a need to create awareness in
not causative for, a
amino acids were found to be
general population on the ill effects
normal.
of inborn errors of metabolism
not be expressed as
degenerative disease
disease.
Aciduria
of
inborn
errors
of
B 12.On quantitation the levels of
Blood
ammonia
levels
and the need to prevent them.
were also normal.
This would certainly benefit the
Amino
acid
in
diagnosis
the
protein
adequacy
society as a whole in reducing and
dietary
preventing psycho-social burden
and
amino
of the medical consequences due
to inborn errors of metabolism.
intolerance,
nutritional
The concept that “metabolic
minerals)
or genetic disorders are very
dysfunction,
difficult to diagnose and if
abnormalities,
diagnosed, it is impossible to
renal
&
reduced
(vitamins,
hepatic
psychiatric
Vol 1
aids
of
acid balance, forms of protein
deficiencies
18
analysis
detoxification
capacity,
treat” no more stands.
Achievements
DR. (MISS) TESTER FRAMROZE ASHAVAID
Ph.D, FACB, CSi, PGDBA (Fin).
• Principal Investigator for LTMT Institution award for 2 years “ Study of
Indian genome to assess the risk factors in coronary heart disease ”
, 2001.
• Invited to Judge poster session at the 15th World Congress of International Society of Heart Research held at Winnipeg, Canada, from
6th – 11th July,2001.
• Lady Tata Memorial Trust(LTMT) awarded Institutional grant for 18
months. For research project entitled “ Development of Multilocus Assay
for Candidate Markers in Indian Patient s with Cardiovascular disease risk,
(Sanctioned 2003)
• Department of Biotechnology (DBT), Govt. of India awarded Institutional
grant
for 3
years research project entitled “The genetic basis of
atherothrombotic coronary artery disease in the Indian population.
(Sanctioned, 2003).
• Applied Biosystems awarded SNP Genotyping reagents worth $3150 for
research work on “Single Nucleotide Polymorphism and Risk of Coronary
Heart Disease in the Indian Population”. {2003)
• Daiichi Pure Chemicals (Japan) and Accurex Biomedical Pvt. Ltd India have
supported a project entitled “Measurement of lipids, lipoproteins, and
apolipoproteins in healthy Indian population”. (2003)
• DBT Task force meeting held at Dept.of Biotechnology the research
project entitled “ The genetic basis of coronary artery disease in Indian
Population” (2005).
• Appointed on the Inspection Committee of University of Mumbai to inspect
the institutions for M.Sc, Ph.D.
• Invited lecturer for MRCOG Part I (Biochemistry) conducted in UK. through teleconference in 2003.
• Postgraduate guide to M.Sc. and Ph.D students in Applied Biology from
University of Bombay.
Email: [email protected] Contact No. 24451515 Extn - 7135 / 7136
Lab Communique
19
Laboratory Medicine Consultants
From Left to Right:
Dr. Anand Deshpande (Transfusion Medicine & Hematology), Dr. Chitra Madiwale
(Histopathology & Cytopathology), Dr. Sharmila Ghosh (Hematology), Dr. Tester Ashavaid (Biochemistry), Dr.
R. B. Deshpande (Histopathology & Cytopathology), Dr. Anita Bhaduri (Histopathology & Cytopathology), Dr.
Camilla Rodrigues (Microbiology), Dr. Vipla Puri (Radioimmunoassay), Dr. Anjali Shetty (Microbiology) and
Dr. Shanaz Khodaiji (Hematology).
20
Vol 1
Funded Research / Projects in the Department
of Laboratory Medicine (July 2007 to Date)
1. LDL and HDL subfractions, their genetic basis and the role of 5-Lipoxygenase
activator protein (FLAP) promoter polymorphism in Coronary Heart disease.
Dr. Tester F. Ashavaid
2. Early detection of Invasive fungal infections in Immunocompromised patients
Dr. Camilla Rodrigues
3. Molecular diagnosis of Cystic Fibrosis in Indian patients
Dr. Tester F. Ashavaid
4. Role of Lipoprotein (a) in Atherosclerosis in Indian population
Dr. Tester F. Ashavaid
5. Hepatitis G Virus and occult hepatitis B infection in healthy blood donor population
Dr. Anand Deshpande
6. A comparison of private and public healthcare’s effect on tuberculosis epidemic in
Mumbai, India.
Dr. Camilla Rodrigues
7. Role of Matrix metalloproteinase gene variants in Indian patients with coronary artery
Dr. Tester F. Ashavaid
8. To improve the diagnosis of Autoimmune Hepatitis.
Dr. Anand Despande
9. Hospital Acquired Pneumonia (HAP). Including Ventilator associated Pneumonia (VAP)
in Adults:-Etiology clinical outcome and antibiotic susceptibility pattern.
Dr. Camilla Rodrigues
10. Optimization of multiplex PCR for diagnosis of TB from clinical samples and
evaluating the utility of MIRU VNTR in genotypic and phylogenetic studies’
Dr. Camilla Rodrigues
11. Monitoring of minimal residual disease in ALL’.
Dr. Sharmila Ghosh
12. TB specific CD4 and CD8 T cell responses in the presence of persistent antigen - Does
prolonged in vivo exposure of TB specific T cell to MTB antigen lead to a level of
dysfunction in TB specific T cells?
Dr. Camilla Rodrigues
13. Direct susceptibility tesing of M.Tuberculosis with BACTEC MGIT 960 system
Dr. Camilla Rodrigues
14. Invitro susceptibility testing to anti tubercular experimental compounds.
Dr. Camilla Rodrigues
Lab Communique
21
Fibroblast Growth Factor
23 (FGF 23) in Bone
Kidney Axis
FGF 23 has emerged as an important
phosphate balance and as such
moderator in the physiology of
also a potential uremic toxin.
phosphate
homeostasis.
Renal
disorders
More recently, FGF 23 has been
leading to hypophosphatemia are
implicated as an excellent indicator
among the causes of defective
of the complex derangements of
mineralization of bone and growth
Calcium
plate development.
induced by chronic kidney disease
phosphate
wasting
Dr. Vipla Puri, Ph.D
and
Phosphate
probably
also
metabolism
a
valuable
Given the dramatic increase in
surrogate
skeletal size during growth, the
deranged mineral metabolism.
parameter
of
the
need to preserve skeletal mass
during adulthood and the large
Sensitive measurement of human
capacity of bone to store calcium
FGF
and phosphate, a complex systems
considered
biology has evolved that permits
diagnostic tool for the evaluation of
cross-talk
patients with a variety of different
between
bone
and
23
in
circulation
as
an
is
now
important
other organs to adjust phosphate
hypophosphatemic
disorders
balance and bone mineralization in
including oncogenic osteomalacia,
response to changing physiological
X-linked hypophosphatemic rickets,
requirements.
bone and mineral homeostasis,
and early and advanced renal
FGF 23 is a recently identified
failure. FGF 23 has also been
‘Phosphatonin’ that is implicated
implicated as a predictor of the
in systemic balance of phosphate
risk of mortality in the first year of
maintained
hemodialysis and in patients with
by
interaction
of
intestines, bone and kidneys.
renal transplant.
In
excessive
We, at Hinduja Hospital are the
results
first to start this test since it is
low
now established that FGF 23 is
1,25-Dihydroxy Vitamin D3 levels
also an important marker for the
and osteomalacia. Circulating FGF-
therapeutic approach in Chronic
23 is a physiological regulator of
Kidney Disease patients.
clinical
activity
in
of
settings,
FGF
23
hypophosphatemia
Dr. Vipla Puri, Consultant Radioimmunoassay, Ph.D - Consultant RIA Laboratory
Email: [email protected]. Contact No. 24451515 Extn - 7148/7149
22
2009
Vol
1 Vol 1 No. 1
Help prevent thalassemia
– Jago re …..
Dr. Sharmila Ghosh
MD – Pathology
Thalassemia refers to a spectrum
high among certain communities
of
such
diseases
characterized
by
as
Sindhis
and
Punjabis
the reduction or absence in the
from Northern India, Bhanushalis,
synthesis of the globin chains
Kutchis, Lohanas from Gujarat,
of hemoglobin. The disease was
Mahars, Neobuddhists, Kolis and
first noted in the Mediterranean
Agris from Maharashtra, & Gowdas
population, and this geographical
and Lingayats from Karnataka etc.
association explains its naming by
and certain tribes in the northern,
Whipple and Bradford in 1932 as
western and eastern parts, with
“Thalassa” which in Greek means
lower incidence in the southern
the sea and “Haema” is Greek for
tribes. There is a genetic, ethnic
blood.
and
regional
diversity
of
the
hemoglobin variants as well as of
Worldwide,
approximately
15
the genetic mutations in India.
million people are estimated to
suffer from thalassemic disorders.
Reportedly, there are about 240
million carriers of b- thalassemia
worldwide,
i.e.
1.5%
of
world
population, and in India alone,
the number is approximately 30
million with 50% in S.E.Asia. The
burden of hemoglobinopathies in
Thalassemia exists in 3 forms:
• Thalassemia
asymptomatic
trait
or
carrier
the
stage–
The carrier does not exhibit
any symptoms and leads an
absolutely normal life
• Thalassemia
intermedia–
India is high with nearly 12,000
Genotypically
infants being born every year with
similar to a thalassemia major
a severe disorder. These numbers
but differs phenotypically in
imply that every hour 1 child is
that they do not require regular
born who will suffer with this
transfusions
the
patient
is
genetic disorder. The carrier rate
for b thalassemia varies from 1-17
• Thalassemia
major–
major,
In
% in India with an average of 3.2 %.
thalassemia
This means that on an average 1 in
production of -globin chains is
every 25 Indians is a carrier of
severely impaired, because both
thalassemia. The distribution of
β-globin genes are mutated.
the thalassemia gene is not uniform
The severe imbalance of globin
in India and the prevalence is very
chain
synthesis
results
the
in
Dr. Sharmila Ghosh, Consultant Hematology, MD – Pathology. E-Mail: dr_ [email protected]
Contact No. 24451515 Extn - 8013/8014
Lab Communique
23
The cost
of treatment
ineffective erythropoiesis and
child with beta thalassemia trait.
severe microcytic, hypochromic
These are the possible outcomes
anemia. Clinical presentation of
with each pregnancy.
thalassemia major occurs at 6
of a 4-year-old
months of age. Affected infants
fail
thalassemic child is
to
and
become
of having a child with beta
pale.
Feeding
thalassemia trait
thrive
progressively
around Rs.90,000-
problems, diarrhea, irritability,
100,000 annually.
progressive enlargement of the
The only cure
may occur. Patients are treated
recurrent bouts of fever, and
• 50 percent (1 in 2) chance of
having a child without trait
abdomen due to splenomegaly
by lifelong blood transfusion
available today
every 15 to 30 days along with
is bone marrow
iron chelation therapy.
transplantation
old thalassemic child is around
which is largely
The only cure available today
unaffordable to the
which is largely unaffordable to
The
cost of treatment of a 4-yearRs.90,000-100,000
annually.
is bone marrow transplantation
the large majority of the Indian
large majority of the
Indian children.
• 50 percent (1 in 2) chance
children.
Prevention of thalassemia – the
need of the hour.
What if both parents have Beta
Thalassemia trait?
If
both
parents
have
beta
There is an urgent need for the
thalassemia trait there is a 25
prenatal diagnosis of thalassemia
percent (1 in 4) chance with each
to
pregnancy of having a child with
combat
the
burden
of
hemoglobinopathies
in
India.
Beta Thalassemia disease. Beta
Thalassemia
autosomal
Thalassemia disease is a lifelong
which
illness that can result in serious
recessive
is
an
disorder
is
inherited from parents.
health problems. These are the
possible
If
one
(1)
parent
has
beta
outcomes
with
each
pregnancy.
thalassemia trait and the other
24
Vol 1
parent has normal hemoglobin A,
• 25 percent (1 in 4) chance
there is a 50 percent (1 in 2) chance
of having a child with beta
with each pregnancy of having a
thalassemia disease
At Hinduja
Hospital, we have
the facility for
the screening of
• 50 percent (1 in 2) chance
• Antenatal women in their first
of having a child with beta
thalassemia trait
trimester
• Parents and extended family of
• 25 percent (1 in 4) chance of
having a child without trait or
disease
thalassemia major children
• Individuals belonging to the
high-risk communities
• Any individual with a raised
hemoglobin variants
RBC count
by the Cation-
In
the
screening
for
classical
exchange HPLC
beta thalassemia trait, the first
(CE-HPLC) system
the
classical
which is currently
the
hypochromic
red blood cells and the red cell
indicator is the blood film with
phenotype
being
microcytic
indices showing a reduced mean
the method of
corpuscular hemoglobin (MCH)
choice for screening
and mean corpuscular volume
hemoglobinopathies
presence of an elevated level of
and has been
quantified by the high performance
established to
be superior to
electrophoresis.
(MCV).
The
hallmark
is
the
Hb A2 which can be detected and
liquid
Thalassemia
huge
the gold standard technology for
psychological and financial drain
the screening of beta thalassemia
on patients and their families.
carriers today.
This
produces
dreaded
disease
a
chromatography(HPLC),
can
be
At Hinduja Hospital, we have
prevented by extensive screening
the
and counseling programmes. All
of hemoglobin variants by the
it takes is a simple blood test to
Cation-exchange HPLC (CE-HPLC)
identify silent carriers and counsel
system which is currently the
them so as to avoid marriages
method of choice for screening
between them.
hemoglobinopathies
Who then should be screened for
thalassemia?
• Pre-marital youth (18-25 years
of age)
facility
for
the
screening
and
has
been established to be superior to
electrophoresis.
Highlights of this method:
• Fully automated
Lab Communique
25
CE-HPLC system in Hinduja Lab
• Allows the quantification of
HbA2, HbF, HbA along with that
HPLC generated chromatogram
of hemoglobin variants HbS,
HbD, HbE, HbC from a single
test.
• The time taken for analysis is
only 6 minutes.
which
ensures
the
accuracy of results.
• CE-HPLC
for
and
can
also
prenatal
prenatal
Vol 1
pediatricians,
infrastructure
for
screening
hemoglobinopathies by the HPLC
technology. Community awareness
used
programmes will not only help to
screening
spread knowledge of the disease
be
diagnosis
hemoglobinopathies.
26
obstetricians,
backed by excellent laboratory
• Strict attention is paid to quality
control
It is a combined effort involving
of
but also remove the social stigma
associated with thalassemia.
Achievements
Dr Sharmila Ghosh
MD. Consultant, Hematology
Awarded scholarship by the international jury for the International Society of Pediatric
Oncology (SIOP) for participation and paper presentation at the regional and annual
congress of SIOP, held at Shanghai and Geneva, 2006. Member of the organizing
committee and faculty for SIOP 2007, held at Mumbai.
Publications: More than 20 publications in peer reviewed journals
ECFMG award for best post graduate speaker
Life Member
• Indian Society of Hematology and Blood Transfusion
• Flow Cytometry Society
• Mumbai Hematology Group
E-Mail - dr_ [email protected]. Contact No. 24451515 Extn - 8013/8014
Lab Communique
27
New Tests Introduced
Hematology
APTT Inhibitor Screen
Blood lympho culture by cell culture
Jak 2 mutation by PCR Qualitative
Blood Bank
Cross matching & RBC ab screening
HCV genotyping
Biochemistry
DPD Mutation analysis
TPMT mutation analysis
DMD 22 mutation analysis
Biotinidase
Microbiology/Serology
Culture NTM atypical Mycobacterium
Influenza Antigen
Scrub Typhus IgM
RIA Lab
Glutamine
Histamine
Plasma Metanephrine
Plasma Nor Metanephrine
Fibroblast growth factor 23
BAL Fluid CD4 C8 Counts
For a price list and more information please contact the Assistant Manager Diagnostic Services,
Dr. Preeti Goraksha at 24451515 Ext 7142 / Chetna Patil, Quality Co-ordinator at 24447943 Ext 7143
Printed and Published by Marketing Department Hinduja Hospital, Veer Savarakar Marg, Mahim,
Mumbai - 400016 at Synergy Creations for free and private circulation.
Editor: Dr. Anita Bhaduri. Registered.
(The publisher cannot be held responsible for errors or any consequences
arising from the use of the information contained in this newsletter).
28
Vol 1