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Genetic Testing
Introducing Dorevitch’s Genomic Diagnostics
As one of Australia’s longest running
and nationally coordinated DNA
testing organisations, Dorevitch’s
Genomic Diagnostics perform
specialised and complex DNA
testing with heavy involvement
from expert pathologists and
scientists.
Our laboratories have been
providing genetic testing for over
20 years, with specialist labs across
the country. We continue to lead
the way in pioneering innovative
genetic tests by developing and
introducing the latest technologies
to Australia, as well as by providing
patients and doctors with access
to over 3000 different genetic tests
for rare and esoteric disorders,
including molecular tests for more
than 2000 genes through our
international network.
Genetic Testing
Genetic tests can be performed for both non-inherited conditions
(such as cancers and leukaemias) and inherited conditions (such as
cystic fibrosis). They are similar to medical tests that have traditionally
been provided by pathology laboratories in that they can provide
answers, predict and recommend treatment options, medication
efficacy, or guide reproductive options. However, they are also
different in that many doctors and patients are unfamiliar with their
clinical applications, power, or limitations. Some genetic tests have
significant predictive power (such as the ability to confidently predict
future possibility of cancer or neurological disease) and have medical
implications which require specific discussion between the doctor
and patient, and at times require a written consent prior to testing.
Dorevitch’s Genomic Diagnostics strongly emphasises a consultative
service between referring doctors and our genetic specialists. We
are here to provide answers to all your questions about our tests,
how to access them, and their associated costs. We can help doctors
and patients understand what the tests do, why they are being
performed, and whether they are the most appropriate test.
How to order genetic tests
Many routine diagnostic genetic tests can be requested using
pathology forms available through Dorevitch Pathology. Some tests,
particularly those with complex interpretive consequences may
require detailed clinical information or specialised request or consent
forms. If you require further information or guidance about genetic
testing requests or forms, please call 1800 822 999, visit our website, or
email us on [email protected]
Costs of genetic tests
Genetic testing is often complex, requiring specialised equipment
and time from highly trained medical and scientific personnel.
Some genetic tests attract a full or partial rebate by Medicare and
can be bulk billed at no direct cost to patients. Others require certain
clinical conditions to be met in order to attract a rebate, so it is
important to include appropriate clinical notes (these are denoted by
an * in the list on the following pages).
Many genetic tests are not funded by Medicare and attract no
rebate, thus patients may incur additional costs privately. If you
are unsure about the cost of a genetic test, please call 1800 822 999,
or email us on [email protected]
Our Team
Each member of our senior team has worked in a nationally
recognised leadership role as academics, researchers, and
diagnosticians. They have also participated in professional
societies at the highest levels through their contributions to
the development of testing guidelines and standards, or as
examiners and speakers.
We bring our experience to you, and we are available for
advice and consultation on technical or clinical matters.
Dorevitch’s Genomic Diagnostics is not just about providing
a result. We are here to support your management decisions
by providing guidance about the best choice of tests, helping
in the interpretation of results, and by ensuring that testing
provided meets the highest quality and accreditation
standards.
Dr Melody Caramins
B.Med, PhD, FFSc., FRCPA
Dorevitch’s Genomic Diagnostics
is headed by Dr Melody Caramins.
Dr Caramins is a nationally
recognised expert in the field
of genetics, holding both
medical and scientific specialist
qualifications. She has over 20
years of experience working
in medicine and pathology, in
roles including direct healthcare
delivery, research, and in the provision of diagnostic services at a
senior level in both public and private healthcare settings.
Dr Caramins was awarded her FRCPA in 2006 as Australia’s first
graduate from the Genetic Pathology program, with her training
undertaken in Sydney at Royal Prince Alfred Hospital and Prince of
Wales Hospital. She has a longstanding interest in improving patient
care by integrating research, clinical and diagnostic activities,
and has published a number of journal articles highlighting this
in diverse clinical settings including prenatal genetics, cancer
genetics, and adult-onset genetic disorders. She continues to be an
active advocate for greater access to genetic testing, and for greater
inclusion of genetics in mainstream medicine through her ongoing
teaching and committee activities nationally.
Ms Nicole Chia MScM, FHGSA, FFSc.
Associate Professor Nicole
Chia is a highly experienced
clinical scientist, having
begun working in the field
of Clinical Cytogenetics
in 1983. She is a Fellow
of the Royal College of
Pathologists of Australasia’s
Faculty of Science (FFSc.,
RCPA) and a Fellow of the
Human Genetics Society of Australasia (FHGSA).
Nicole obtained her Master of Science degree in
2008 and is currently completing her PhD thesis.
She has an international reputation in the field of
Clinical Cytogenetics including a role as consultant
to the International Standing Committee on Human
Cytogenetic Nomenclature. She has been an invited
speaker at numerous international and national
meetings and has a number of peer reviewed scientific
publications, and is an active promoter of continuing
education and a senior board member of the HGSA as
Chief Examiner and Chair of the Cytogenetics Board of
Censors.
In her role as Adjunct Associate Professor at Canberra
University, Nicole continues to pursue her commitment
to the education of medical scientists in the field of
clinical and molecular cytogenetics, a rapidly expanding
field of diagnostic pathology. Nicole is the Genetics
Manager for QML pathology, Specialist Diagnostic
Services and currently manages an Australia-wide
diagnostic Cytogenetic and Molecular Cytogenetic
Service.
Dr Serguei Kovalenko PhD
Dr Peter Taylor PhD, FHGSA
Dr Peter Taylor is a Molecular
Geneticist with solid training
in general pathology prior to
commencing specialisation in
1986.
Peter’s
clinical
interests
include oncogenetics and
neuromuscular genetics. Early
in his career, Peter performed
research associated with the cloning of the estrogen receptor
and its regulation and role in breast cancer at the University
of New South Wales. Breast cancer genetics and the study
of mutations associated with breast tumours has been an
area of ongoing interest throughout his career. In his PhD
thesis he reported the identification the cause of a newly
described neuromuscular condition, determined the clinical
utility of a comprehensive screening program for X-linked
muscular dystrophy, and described the correlation between
gene mutation location and cognitive defects in Duchenne
muscular dystrophy. He has several highly read peer-reviewed
papers and has contributed to numerous conference papers.
He is a Fellow of the Human Genetics Society of Australasia
(FHGSA) and is the immediate past Chair for the Molecular
Genetics Society of Australasia (MGSA), acting as an examiner
for the annual examinations. He is the Scientific Director for
Molecular Testing at Western Diagnostic’s Genomic Pathology,
Specialist Diagnostic Services, and currently manages human
and animal molecular genetic testing.
Dr Simon Cliffe PhD, FHGSA
Dr Simon Cliffe has worked in
the field of medical genetics
in diagnostic and research
capacities for more than 11
years. He was awarded his PhD in
2012, in a project leading to the
discovery of the genetic basis of
two autosomal recessive genetic
disorders, including publications
in leading journals such as Nature Genetics and Human Molecular
Genetics.
His diagnostic experience includes senior roles in academic
hospital settings, and he was awarded his FHGSA in 2014.
He is a divisional head with reporting responsibility located
in Victoria, and has a particular interest in translating novel
research findings in inherited and somatic genetics into
deliverable clinical tests for patients and doctors, with a focus on
next-generation sequencing technologies.
Dr Serguei Kovalenko obtained
his PhD in Molecular Cytogenetics
in 1992 investigating the
pharmacogenomics of anthracycline
antiobiotics utilised in the
treatment of cancer.
Prior to joining Dorevitch’s
Genomic Diagnostics, Serguei was
Head of Medical Diagnostics at
Genetic Technologies Corporation, and also served as Molecular
Pathology Diagnostic Laboratory Manager at Peter MacCallum
Cancer Centre in Melbourne. He is the author of more than 30
refereed articles, including prestigious journals such as Nature
and Nature Genetics.
Dr Kovalenko is a curator of the MutaBase mutation database
and an active member of the HGSA, EviQ, KConFab and HUGO
professional societies. He is a divisional manager with reporting
responsibility at our Melbourne site, with professional interests
including the molecular basis of hereditary and somatic genetic
disorders, molecular diagnostic testing and bioinformatic
solutions for molecular diagnostics.
Mr Neville Pattle B App Sci, M App Sci
Neville Pattle is a senior scientist
with over 35 years’ experience
working in diagnostic pathology.
After initial training as a multiskilled scientist he went on
to haematology and general
laboratory management positions.
In 1999 he was appointed as
chief scientist for genetics and
infectious molecular pathology at Dorevitch Pathology. Neville
continues to be involved in reporting of genetics results, as
well as in laboratory management.
His interests include molecular testing for inherited genetic
conditions such as Cystic Fibrosis and Fragile X, as well as
somatic genetic testing in oncology and haematological
settings. Complementing his interests in the scientific
techniques, Neville takes great pride in the provision of an
excellent clinical service. He frequently liaises with referrers
to ensure client satisfaction, and maintains high quality
results by ongoing involvement as a technical assessor for
the National Association of Testing Authorities (NATA).
Test Name
Brief description of disease, indication
and method
Medicare
Eligibility
Inherited Haematological Disorders
Alpha Thalassaemia Screen
Diagnosis of alpha thalassaemia carriers by detection of selected causative variants
✘
Factor V Leiden mutation detection
Diagnosis of hereditary thrombophilia predisposition by detection of causative variant or
testing of a first degree relative of a person with a proven abnormal genotype
✓*
Prothrombin gene mutation detection
Diagnosis of hereditary thrombophilia predisposition by detection of causative variant or
testing of a first degree relative of a person with a proven abnormal genotype
✓*
Hereditary haemochromatosis
Diagnosis of hereditary haemochromatosis predisposition by detection of causative variants
or testing of a first degree relative of a person with a proven abnormal genotype
✓*
Haematological Oncology
WHOLE
CHROMOSOME
TESTS
Chromosome analysis by microscopy
(also known as karyotype)
Microscopic analysis of all chromosomes to examine structure, rearrangements, and
number; used for the invesitagion of haematological malignancies
✓
Chromosome analysis by microarray
(also known as molecular karyotype)
Submicroscopic analysis of all chromosomes to determine genomic losses and
amplifications; used for the investiagion of haematological malignancies
✓
FISH TESTS
(FLUORESCENCE IN SITU HYBRIDISATION),
USING DNA PROBES
TO DETECT SPECIFIC
CHROMOSOME
ABNORMALITIES WITHIN BLOOD AND
BONE MARROW
TUMOUR CELLS. THE
INDIVIDUAL FISH
PROBES USED WILL
VARY BY THE
SPECIFIC TYPE OF
CANCER BEING
EVALUATED.
LEUKAEMIAS
ARE LISTED
ALPHABETICALLY
AML FISH
AML/ETO t(8;21)(q22;q22) FISH in acute myeloid leukaemia (AML)
✓
RUNX1/RUNX1T1 t(8;21) FISH
Acute myeloid leukaemia (AML), t(8;21)(q22;q22) FISH (AML/ETO)
✓
AML FISH panel
Acute myeloid leukaemia (AML), panel (multiple) FISH
✓
ALL FISH panel
Acute lymphocytic leukaemia (ALL), panel (multiple) FISH
✓
PML/RARA t(15;17) FISH
Acute promelocytic leukaemia (APML), FISH for (15;17)(q22;q21.1)
✓
IGH 14q32 FISH
B-cell disorders
✘
MLL 11q23 FISH
B-cell leukaemias
✓
1;19 rearrangements FISH
B-cell lymphocytic leukaemia/lymphoma
✓
Lymphoma panel FISH
B-cell panel (multiple) FISH
✘
MYC 8q24 FISH
B-cell lymphomas
✘
BIRC3/MALT t(11:18) FISH
B-cell lymphomas
✘
IGK 2p11.2 FISH
B-cell lymphomas
✘
IGL 2p11.2 FISH
B-cell lymphomas
✘
IGH/MYC/CEP8 t(8;14) FISH
Burkitt's lymphoma/ -like leukaemia
✘
IGH/BCL2 t(14;18) FISH
Follicular lymphoma
✘
IGH/CCND1-XT t(11;14) FISH
Mantle cell lymphoma/CLL
✘
CLL FISH panel
Chronic lymphocytic leukaemia (CLL) panel (multiple) FISH
✘
ATM 11q23 FISH
Chronic lymphocytic leukaemia (CLL), FISH for ATM deletions (11q23)
✘
Trisomy 12 FISH
Chronic lymphocytic leukaemia (CLL)
✘
MYB 6q23 FISH
Chronic lymphocytic leukaemia (CLL)
✘
TP53 FISH
Chronic lymphocytic leukaemia (CLL), FISH for TP53 17p13 deletions
✘
13q FISH
Chronic lymphocytic leukaemia (CLL), FISH for 13q14.3 deletions
✘
PDGFRB 5q32 FISH
Chronic myelomonocytic leukaemia
✘
BCR / ABL (FISH or molecular testing,
as requested)
Chronic myeloid leukaemia (CML) FISH for t(9;22)(q34;q11.2), or quantitative testing
via RT PCR. Also used in ALL.
✘
Trisomy/monosomy 7 FISH
Leukaemias, various, including treatment-related
✘
Multiple myeloma FISH panel
Multiple myeloma (MM) panel (multiple) FISH
✘
FISH TESTS
(FLUORESCENCE IN SITU HYBRIDISATION),
USING DNA PROBES
TO DETECT SPECIFIC
CHROMOSOME
ABNORMALITIES WITHIN BLOOD AND
BONE MARROW
TUMOUR CELLS. THE
INDIVIDUAL FISH
PROBES USED WILL
VARY BY THE
SPECIFIC TYPE OF
CANCER BEING
EVALUATED.
LEUKAEMIAS
ARE LISTED
ALPHABETICALLY
MOLECULAR TESTS
Test Name
Brief description of disease, indication
and method
Medicare
Eligibility
1pq (CKS1B/CDKN2) FISH
Multiple myeloma (MM), FISH for amplification/deletion 1q21/1p32.3
✘
IGH/FGFR3 t(4;14) FISH
Multiple myeloma (MM), FISH for t(4;14)(p16.3;q32)
✘
IGH/MAF t(14;16) FISH
Multiple myeloma (MM)
✘
IGH/MAFB t(14;20) FISH
Multiple myeloma (MM)
✘
Myelodysplastic panel FISH
Myelodysplastic syndrome, multiple FISH panel
✘
1pq 1p36/1q25 FISH
Myeloid and lymphoid leukaemias
✓
Trisomy 9 FISH
Myeloid and lymphoid leukaemias
✓
FIP1L1/PDGFRA: CHIC2- deletion 4q12 FISH
Myeloid and lymphoid neoplasms
✓
EVI1 3q26.2 FISH
Myeloid leukaemias
✓
5q- syndrome
Myeloid neoplasms, 5q31.2 FISH for deletion
✘
7q deletion 7q22/7q31 FISH
Myeloid neoplasms
✘
FGFR1 8p12 FISH
Myeloproliferative disorders
✘
20q deletion FISH
Myeloproliferative disorders/Myeloid neoplasms
✘
BCL6 3q26 FISH
Non-hodgkin lymphomas
✘
IGH/MALT1 t(14;18)(q32;q21) FISH
Non-hodgkin lymphomas
✘
PAX 5 9p12 FISH
Non-hodgkin lymphomas
✘
TCL1 14q32.13 FISH
T-cell leukaemias
✓
CALR gene test
Molecular testing for CALR exon 9 variants, myeloproliferative disorders/myeloid neoplasms
✘
FLT3 gene test
Acute myeloid leukaemia (AML), molecular testing for specific variants in FLT3 gene
✓
JAK2 gene test
Molecular testing for specific variants in JAK2, myeloproliferative disorders/myeloid neoplasms
✓*
Lymphocyte gene rearrangement studies
B-Cell lymphoproliferative disorders, detection of B-Cell immunoglobulin gene
rearrangements for the detection of clonality
✘
Lymphocyte gene rearrangement studies
T-cell lymphoproliferative disorders, T-Cell receptor gene rearrangements for the
detection of clonality
✘
MPL gene test
Molecular testing for specific variants, myeloproliferative disorders/myeloid neoplasms
✓*
NPM1 gene test
Acute myeloid leukaemia (AML), molecular testing for specified variants of
nucleophosmin gene (NPM1)
✓
Solid Tumour Oncology Pharmacogenetics (see also Molecular Cytogenetics section)
ALK gene 2p23 FISH
Testing for ALK gene (2p23) rearrangements by FISH in non small cell lung cancer (NSCLC)
✓*
BRAF gene test
Testing for actionable variants in BRAF gene in melanoma
✓*
Cancer Origin Test™
For investigation of cancers of unknown primary
✘
EGFR gene test
Testing for actionable variants in EGFR gene in non small cell lung cancer (NSCLC)
✓*
RAS gene test
Testing for actionable variants in KRAS and NRAS genes in colorectal cancer
✓*
Tumour molecular profiling by massively
parallel sequencing (Ideally suited for
molecular profiling of lung, melanoma,
colon, gastric, and ovarian malignancies)
AKT1, ALK, APC, BRAF, CDH1, CTNNB1, EGFR, ERBB2, FBXW7, FGFR2, FOXL2, GNAQ, GNAS,
KIT, KRAS, MAP2K1, MET, MSH6, NRAS, PDGFRA, PIK3CA, PTEN, SMAD4, SRC, STK11, TP53,
selected exons. Molecular testing for specific variants. All exons of selected genes (e.g.
KRAS and NRAS), some genes only include specified actionable variants.
Eligible in clinical
circumstances which
meet MBS criteria for
EGFR or RAS testing
FISH TESTS
Test Name
Brief description of disease, indication
and method
Medicare
Eligibility
1p36 microdeletion syndrome FISH
Specified microdeletion diagnosis using FISH probes for genes at 1p36
✓*
22q microdeletion syndrome FISH
Diagnosis of 22q Microdeletion Syndrome using FISH probes at 22q13
✓*
Alveolar Rhabdomyosarcoma FISH
FKHR 13q14 FISH
✘
Angelman FISH
Diagnosis of Angelman Syndrome using FISH probes at 15q11.2-q14
✓*
Aneuploidy - detection of common
trisomies prenatally (13,18,21)
Diagnosis of trisomies 13, 18, and 21 by FISH or by QF-PCR. Down Syndrome, Edward
Syndrome, Patau Syndrome
✘
Cri du Chat FISH
Diagnosis of Cri du Chat Syndrome using FISH probes at EGR1
✓*
Di George/VCFS FISH
Diagnosis of Di George/VCFS Syndrome using FISH probes at 22q11.2
✓*
Ewings Sarcoma FISH
EWSR1 22q12 FISH
✘
Glioma FISH
GLI 12q13 FISH
✘
Liposarcoma FISH
CHOP 12q13 FISH
✘
Liposarcoma FISH
FUS 16p11 FISH
✘
Miller-Dieker FISH
Diagnosis of Miller-Dieker Syndrome using FISH probes at LIS1
✓*
MDM2 amplification 12q14.3 FISH
Various Neoplasms
✘
Prader Willi FISH
Diagnosis of Prader Willi Syndrome using FISH probes at 15q11.2-q13
✓*
Sex determination
Diagnosis of sex chromosome imbalances for chromosomes X and Y by FISH or QF-PCR
✘
Smith-Magenis FISH
Diagnosis of Smith-Magenis Syndrome using FISH probes at RAR1
✓*
Sotos FISH
Diagnosis of Sotos Syndrome using FISH probes at NSD1
✓*
Synovial sarcoma FISH
SYT 18q11.2 FISH
✘
Williams-Beuren FISH
Diagnosis of Williams-Beuren Syndrome using FISH probes at ELN
✓*
Wolf-Hirschorn FISH
Diagnosis of Wolf-Hirschorn Syndrome using FISH probes for genes at 4p
✓*
X inactivation FISH
Diagnosis of X Inactivation Syndrome using FISH probes at XIST
✓*
Xp Yp deletions FISH
Diagnosis of Xp Yp Deletions using FISH probes at SHOX
✓*
Yp rearrangements FISH
Diagnosis of Yp rearrangements using SRY probe
✓*
Chromosome analysis by microscopy
(karyotyping)
Microscopic analysis of chromosome structure and number, used for multiple indications
✓
Chromosome analysis by microscopy
(karyotyping)- prenatal
Used in the investigation of genetic causes of foetal abnormalities and for the investigation
of high risk pregnancies
✓
Chromosome analysis by microscopy
(karyotyping)- products of conception
Used in the investigation of genetic causes of foetal abnormalities and foetal demise
✓
Dravet Syndrome, inherited seizures,
inherited epilepsy
SCN1A Comprehensive Test
✘
Dravet Syndrome, inherited seizures,
inherited epilepsy
SCN1A Mutation Segregation Analysis
✘
Fragile X testing
Diagnosis and carrier testing for Fragile X related disorders, including Fragile X tremor and
ataxia, premature ovarian insufficiency, and developmental delay
✓*
Gilbert Syndrome
Diagnosis of benign hyperbilirubinaemia by detection of specific variants in UGT1A1
✘
SCA 8 genetic testing
Diagnosis of autosomal dominant ataxia caused by expansion mutations of ATXN8
✘
Sendaway tests via our international
network (over 3000 genetic tests)
Tests for rare genetic conditions via an accredited laboratory network
✘
Provision of genetic evidence regarding biological relationship for legal, immigration or
peace of mind purposes. See website for further details
✘
Cytogenetics
Other Molecular Genetic Testing
Non Medical Genetic Testing
Relationship testing
Test Name
Brief description of disease, indication
and method
Medicare
Eligibility
Other Pharmacogenetics
TPMT genotyping
Testing for specific variants in the TPMT gene to predict dosage of azathioprine and
6-mercaptopurine
✓
Ankylosing Spondilitis
HLA-B27 genotyping in association with CRP testing
✓
Coeliac disease
Genotyping for variants of HLA DQ2 and DQ8 in association with other tests
✓
Alpha-1 Antitrypsin gene test
SERPINA1 molecular genetic testing
✘
Chromosome analysis by microscopy
(karyotyping)
Used in the investigation of genetic causes of male and female infertility
✓
Cystic fibrosis genetic testing
Confirmation of suspected cystic fibrosis, or for carrier testing
✘
Cystic fibrosis genetic testing
Used in the investigation of genetic causes of male infertility, or for preconception
carrier testing
✘
Fragile X genetic testing
Used in the investigation of premature ovarian insufficiency
✓*
Y Chromosome microdeletion analysis
Used in the investigation of male infertility (AZF, DAZ)
✘
Non-invasive prenatal testing (NIPT)
Used to detect common foetal genetic chromosome abnormalities. This is a rapidly
changing area of testing; please contact the laboratory for details
✘
Detection of ethnic-specific hereditary breast/ovarian cancer susceptibility variants
✘#
Inherited Immunological
Respiratory, Fertility and Development
Inherited Cancer Genetic Testing
INHERITED BREAST/
OVARIAN CANCER
Ashkenazi BRCA1/2 founder mutation test
# No Medicare rebate available. Referral in conjunction with appropriate counselling and documentation.
BRCA1 and BRCA2 comprehensive test
(both genes)
Inherited breast/ovarian cancer, sequencing and copy number analysis of BRCA1
and BRCA2
✘#
# No Medicare rebate available. Referral in conjunction with appropriate counselling and documentation.
BRCA1 or BRCA2 comprehensive test
(single gene)
Sequencing and copy number analysis of single gene (BRCA1 or BRCA2)
BRCA1 or BRCA2 predictive Test
Detection of a single family-specific DNA variant in inherited breast/ovarian cancer
✘#
# No Medicare rebate available. Referral in conjunction with appropriate counselling and documentation.
✘#
# No Medicare rebate available. Referral in conjunction with appropriate counselling and documentation.
INHERITED BOWEL/
ENDOMETRIAL
CANCER
Lynch Syndrome, gene panel
Comprehensive sequencing and copy number of multiple genes (MLH1, MSH2, MSH6,
PMS2, MYH and EPCAM) in hereditary bowel/endometrial cancer (Lynch Syndrome)
✘#
# No Medicare rebate available. Referral in conjunction with appropriate counselling and documentation.
Lynch Syndrome, single gene
Single gene comprehensive test, sequencing and copy number analysis, in hereditary
bowel/endometrial cancer (Lynch Syndrome)
✘#
# No Medicare rebate available. Referral in conjunction with appropriate counselling and documentation.
Lynch Syndrome, predictive test
Detection of a family-specific DNA variant in hereditary bowel/endometrial cancer
(Lynch Syndrome)
✘#
# No Medicare rebate available. Referral in conjunction with appropriate counselling and documentation.
Cardiovascular
APOE gene variant detection
Detection of hyperlipoproteinaemia and cardiovascular risk
✘
MTHFR gene variant detection
Homocysteine and folate metabolism in conjunction with other tests
✓*
*Only if fulfilling clinical criteria for inherited thrombophilia risk testing and performed with conjunction with
prothrombin and factor V Leiden mutation detection
Molecular Cytogenetics (inherited disorders and solid tumours)
WHOLE
CHROMOSOME
TESTS
Chromosome analysis by microarray
(molecular karyotyping)
Molecular (submicroscopic) analysis of chromosome imbalances, used in the investigation
of autism, developmental delay, or multiple congenital abnormalities
✓*
Chromosome analysis by microarray
(molecular karyotyping) - prenatal and
products of conception
Used in the investigation of genetic causes for high risk pregnancies with foetal anomalies,
or after foetal demise
✓
www.dorevitch.com.au
www.genomicdiagnostics.com.au
For clinical enquiries, please contact: Pathologist in Charge, Dr Melody Caramins
Email: [email protected] Ph: 1800 822 999