Ordering Mater Pathology tests and supplies

Anatomical Pathology offers a range of high level expertise across a wide spectrum of histopathology, including routine and tertiary level teaching hospital expertise.

Our vastly experienced anatomical team meticulously provide:

• timely, thorough and careful histopathology reporting with particular interests in breast, skin, gynaecological, perinatal and urological pathology
• a tradition of working closely with clinicians with careful clinicopathological correlation and involvement at clinical meetings to improve patient outcomes
• rapid reporting of clinically urgent specimens including after-hours support, with 24-hour pathologist availability for advice regarding urgent sample collection
• perinatal pathology expertise, including postmortem services
• clinically appropriate integration of molecular or other testing
• attendance at off-site frozen sections as needed (please note advance bookings are essential)
• research expertise and collaboration with clinician-researchers.

We also offer a complete range of cytopathology services including:

• assessment of a range of fluid specimens including pleural effusions and ascites, with appropriate work up for a diagnosis of malignancy
• aspiration cytology, including cytology attendance at aspiration to minimise the need for resampling ue to inadequacy
• cervical cytology and pap smear service, with testing available for high-risk HPV in liquid-based samples.

We welcome all referrals, large or small, and appreciate the chance to play a role in guiding patient management for the best outcome for individual patients.

The Mater Pathology Chemical Pathology laboratory is staffed by a highly experienced team of pathologists and scientists and offers a comprehensive array of routine and complex testing to a number of private hospitals across Brisbane and to the local community. We serve as a reference laboratory for several highly specialised tests Australia-wide, and provide significant support for research and clinical trials.

Our routine service encompasses:

• general biochemistry
• diabetes testing and monitoring
• therapeutic drug monitoring
• routine and specialist endocrinology
• first trimester pregnancy screening
• kidney stone analysis
• vitamins
• tumour markers
• special protein investigations.

We also offer a specific range of specialised tests, including comprehensive chromatography and mass spectrometry services:

• serum adrogens and oestradiol by tandem mass spectrometry. We are the only clinical laboratory in Queensland offering routine serum testosterone measurement by mass spectrometry.
• blood-spot 17-hydroxyprogesterone testing for the monitoring of children with congenital adrenal hyperplasia
• advanced nutritional testing with serum and urine methylmalonate, fat soluble vitamins and plasma essential fatty acids
• diagnosis and monitoring of metabolic disorders with organic acids, amino acids, creatine and purine and pyrimidine metabolites.

Our expert team of pathologists are available for consultation on all aspects of Chemical Pathology, including the investigation of inborn errors of metabolism.

Mater Pathology's Haematology laboratory is home to a large team of highly experienced and dedicated haematopathologists and haematology scientists.

Our team provides:

• prompt feedback regarding abnormal blood findings
• a prompt bone marrow aspiration and biopsy service
• pathology input in tertiary level hospital multidiscipline meetings
• medical and scientific education
• biochemical genetics advice
• assistance in research and clinical trials
• training programs for future Haematologists

In addition to our comprehensive service, we offer a range of specialised tests including:

• Hypercoagulability testing
• investigations into bleeding tendencies
• monitoring of new and old oral anticoagulant treatment
• haemoglobinopathy testing (including molecular testing)
• bone marrow pathology
• flow cytometry
• specialised blood banking service.

We run an efficient Warfarin management care clinic that cares for hundreds of patients. Our service to these patients includes regular communication with the GPs or specialists, instructions regarding diet and lifestyle, and after-hours calls (often by haematologists) when necessary.

Mater Pathology's Immunology laboratory covers a wide range of immunology, serology, molecular microbiology and haematological malignancy testing.

We offer a comprehensive screening for autoimmune and allergy testing with a partner laboratory:

• IgE and specific IgE (RAST) allergy testing
• Coeliac disease (TTG and Gliadin)
• SLE, Sjogren syndrome and scleroderma (ANA, dsDNA, ENA)
• Autoimmune hepatitis (tissue antibodies)
• Pernicious anaemia (Intrinsic factor, parietal cell antibodies)
• Autoimmune Vasculitis (ANCA, MPO/PR3, GBM) 

Molecular screening for infectious diseases is performed on site with an approach based on innovative multiple PCRS:

• ability to test for additional causes of meningitis with particular relevance to newborn infants (blood and CSR PCR panels)
• testing for less common causes of respiratory infections such as Legionella (Atypical Pneumonia PCR panel)
• respiratory viral and bacterial PCRS- to include typing for Influenza and Parainfluenza 1,2,3 & 4.
• HSV, VZV and Enterovirus PCRs 
• Faecal PCR multiplex for viral, bacterial and parasites
• STI screening with Chlamydia trachomatis, Neisseria gonorrhoeae and Trichomonas vaginalis. 

We perform serological testing for antenatal screening, infectious diseases, immunisation status and sexually transmitted infections including:

• Hepatitis A, B and C
• HIV and HTLV
• Syphilis
• Measles, Mumps and Rubella
• Herpes Simplex
• CMV and Toxoplasma
• Chicken pox (Varicella)
• Mycoplasma
• Pertussis
• Parvovirus

Our experienced flow cytometry team can provide the following services:

• CD4:8 ratio
• Absolute B cell numbers CD34 testing for stem cell transplant collections
• PNH screening
• Haematological malignancies including leukaemia and lymphoma on a wide array of tissues including blood, bone marrow, tissue biopsies and fluids.

The department is both TGA and NATA accredited.

We are supported by highly experienced pathologists across the diverse disciplines within the immunology department, who are readily available to provide advice and assist in the interpretation of results.

In order to enhance our added test service, Mater Pathology offers a fax option for ordering tests in addition to those originally requested on the patient's request form. This option offers a time-efficient way of dealing with your patient’s follow-up.

It is important to note that due to the time-critical nature of testing and limits to storage capabilities, most samples are only stored for seven days after testing is completed (although not all specimens are stored according to this timeline). Serological testing may be stored for extended periods to assist in the assessment of seroconversion, however the instability of some analytes may mean that a sample that is only several days old may be unsuitable for analysis.

The following are some examples of tests that can only be added if special collection and storage requirements have been met:

• ACTH;
• Ammonia;
• β-Hydroxybutyrate;
• BNP;
• C-Peptide;
• CH50;
• Chromogranin A;
• CSF Neurotransmitters;
• Dehydrocholesterol;
• Growth Hormone;
• Ionised Calcium;
• Lactate;
• PTH;
• Renin;
• TB Quantiferon;
• Vitamin A;
• Vitamin E;
• White Cell Enzymes.

The following are some examples of tests that can only be added within the indicated timeframe post collection:

Special Coagulation Tests including Factor Assays (2 hours); Coagulation Profile (4 hours); ESR (6 hours).

For any queries in regard to added tests please contact the laboratory directly on 07 3163 8500.

Faxing Added Tests

By using the following fax form, you can order additional tests without filling out a second request form. All that is required is that you complete the form and sign it, prior to faxing it back to our Added Tests Department on the following number 07 3163 8752.

Mater Pathology Added Test Fax (PDF)

Mater Pathology offers a range of tests that screen for disease-related genetic abnormalities. Using state-of-the-art ‘massively parallel sequencing’ technology, we simultaneously screen a group of genes known to be clinically associated with a particular condition. This improves the chance of identifying a disease-causing gene mutation while significantly reducing the overall cost and time required to perform single gene tests consecutively.

Identifying the causative gene mutation can provide a definitive diagnosis and may inform the best course of patient treatment or management. It can also allow for screening of family members for identification and management of disease risk, as well as facilitate reproductive options (only available through a clinical genetic service).  

Resources and forms: 
Target Gene Panel Brochure
Request Form
Cascade Test consent form
Gene Panel consent form

The genes included for each condition have been selected on the basis of clinical significance by an expert team of genetic pathologists and scientists at Mater Pathology. Our pathologists provide comprehensive interpretation, reporting and advice to referring clinicians utilising the service. The test is performed under strict quality standards within our biochemical genetics laboratory and has been accredited for compliance with the international standard for medical testing (ISO:15189), by the National Association of Testing Authorities (NATA).

Service details

Gene: Variable, based on clinical panel selected at time of request.

Disease/s:
 Maturity Onset Diabetes of the Young (MODY)
 Permanent Neonatal Diabetes
 Familial Hyperinsulinism
 RASopathy Syndromes (e.g. Noonan syndrome, LEOPARD syndrome, Cardiofaciocutaneous syndrome, Costello syndrome, Neurofibromatosis 1, Legius syndrome)
 Disorders of Sex Development

Region/Mutation analysed: All coding regions of genes in selected panel, with >99% of targeted bases sequenced at >25x read depth.

Method: DNA Sequencing. (Note: MLPA testing to detect large deletions/duplications is included for four genes in the MODY panel: HNF4A, GCK, HNF1A and HNF1B)

Specimen: 2ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 8 - 10 weeks.

Price: $1,100 per panel.

Other information: This test must be requested using specific test request/consent forms (available above). Contact the laboratory on +61 7 3163 8500 for more information.

Limitations of the test

This assay will only assess sequence variants in the coding regions of the genes in the appropriate subpanel, with >99% of targeted bases sequenced at >25X read depth. Copy number variations, large deletions or duplications, triplet repeat expansions, structural rearrangements and mosaic states cannot be assessed by this testing methodology. Deletion / duplication analysis using multiplex ligation-dependent probe amplification (MLPA) is routinely performed for four genes in the MODY panel (see table above).

Contact

Laboratory
Mr Ivan McGown: 07 3163 6017 or Email Ivan McGowan

Genetic Pathologists
Dr James Harraway: 07 3162 7679 or Email Dr James Harraway

Test: 15q11 critical region for Prader-Willi Syndrome and Angelman Syndrome (MS-MLPA)

Disease/s: Prader-Willi Syndrome (PWS) and Angelman Syndrome (AS)

Region/Mutation analysed: Deletions and Uniparental Disomy affecting the PWS/AS critical region of chromosome 15q11

Method: Methylation Sensitive Multiplex-ligase Dependent Amplification (MS-MLPA)

Specimen: 5ml EDTA -whole blood

Shipping: Room temperature.  (Please contact the laboratory +61 7 3163 8500 for instructions on shipping samples from outside of Australia).

Turn-around: 2-4 weeks.

Price: $232.50 (Please note this test may be covered by Medicare).

Other information: For further details on the test contact the laboratory on +61 7 3163 8500

Gene: ABCC8/SUR1

Disease/s: Persistent Hyperinsulinaemic Hypoglycaemia of Infancy (PHHI), Neonatal Diabetes.

Region/Mutation analysed: All exons (39) and splice sites.

Method: Sanger Sequencing.

Specimen: 4ml blood (EDTA) or 4µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4-6 weeks.

Price: $2500

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting one of the following gene panels - 1) Maturity Onset Diabetes of the Young (MODY), 2) Neonatal Diabetes or 3) Familial Hyperinsulinism.

Gene: ADSL

Disease/s: Adenylosuccinase Deficiency.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger Sequencing.

Specimen: 4 ml blood (EDTA) or 3µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4-6 weeks.

Price: $1400

Gene: AQP2

Disease/s: Nephrogenic Diabetes Insipidus.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger Sequencing.

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $300

Gene: AR

Disease/s: Androgen Insensitivity Syndrome (AIS), Testicular Feminization.

Region/Mutation analysed: Proximal promoter, all exons, splice sites, 3'UTR and CAG repeats.

Method: Sanger Sequencing.

Specimen: 4ml blood (EDTA) or 3 µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4-6 weeks.

Price: $900

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting the following gene panel - 46,XY Disorders of Sex Development (DSD).

Gene: AVP

Disease/s: Neurohypophyseal Diabetes Insipidus.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger Sequencing.

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $300

Gene: AVPR2

Disease/s: X-linked Nephrogenic Diabetes Insipidus.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger Sequencing.

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $300

Gene: BCR-ABL (Breakpoint Cluster Region - Abelson Murine Leukaemia Viral Oncogene Homolog 1 fusion gene)

Disease/s: Chronic Myeloid Leukaemia (CML) and Acute Lymphoblastic Leukaemia (ALL)

Region/Mutation analysed: BCR-ABL transcript resulting from the translocation t(9;22)

Method: Quantitative and qualitative RT-PCR

Specimen: RNA in Trizol, or fresh EDTA for RNA extraction

Shipping: RNA in Trizol is shipped on dry ice, fresh EDTA is shipped at ambient temperature

Turn-around: 1 week

Price: $230.95 (Please note this test may be covered by Medicare).

Other information: For further details on the test contact the laboratory on +61 7 3163 8500.

Gene: BRAF

Disease/s: Noonan Syndrome.

Region/Mutation analysed: All Exons and splice sites.

Method: Sanger Sequencing.

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $1200

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting the following gene panel - RASopathy Syndromes.

Gene: CYP21A2

Disease/s: Congenital Adrenal Hyperplasia (CAH).

Region/Mutation analysed: Exons 1 to 10, splice sites, promoter and common intronic mutations.

Method: Sanger Sequencing and MLPA

Specimen: 4 ml blood (EDTA) or 3µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4-6 weeks.

Price: $900

Gene: F2 (Coagulation Factor II)

Disease/s: Prothrombin Thrombophilia

Region/Mutation analysed:  Factor II Prothrombin G20210A

Method: PCR

Specimen: genomic DNA extracted from EDTA whole blood

Shipping: Ambient temperature

Turn-around: 1 week

Price: $34.65 (Please note this test may be covered by Medicare).

Other information: For further details on the test contact the laboratory on +61 7 3163 8500.

Gene: F5 (Coagulation Factor V)

Disease/s: Factor V Leiden Thrombophilia (DVT/PE/Miscarriage/APC Resistance), Budd-Chiari Syndrome

Region/Mutation analysed:  Factor V Leiden G1691A

Method: PCR

Specimen: genomic DNA extracted from EDTA whole blood

Shipping: Ambient temperature

Turn-around: 1 week

Price: $34.65 (Please note this test may be covered by Medicare).

Other information: For further details on the test contact the laboratory on +61 7 3163 8500.

Gene: FMR1 (Fragile X Mental Retardation 1)

Disease/s: Fragile X Syndrome, Fragile X associated Premature Ovarian Insufficiency (FX-POI), Fragile X associated Tremor/Ataxia Syndrome (FX-TAS)

Region/Mutation analysed:  CGG repeat in the 5' untranslated region is assessed by triplet repeat primed PCR.

Method: Triplet repeat primed PCR.

Specimen: genomic DNA extracted from EDTA whole blood

Shipping: Ambient temperature

Turn-around: 2 weeks

Price: $86.15 (Please note this test may be covered by Medicare).

Other information: For further details on the test contact the laboratory on +61 7 3163 8500.

Gene: GCK

Disease/s: Maturity Onset Diabetes of the Young 2 (MODY 2), Neonatal Diabetes and Hyperinsulinism.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger Sequencing and MLPA

Specimen: 4ml blood (EDTA) or 2µg genomic DNA

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $745

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting one of the following gene panels - 1) Maturity Onset Diabetes of the Young (MODY), 2) Neonatal Diabetes or 3) Familial Hyperinsulinism.

Gene: GLUD1

Disease/s: Hyperinsulinism-hyperammonemia Syndrome (HHS).

Region/Mutation analysed: Exons 6, 7, 8, 10, 11, 12 and splice sites.

Method: Sanger Sequencing.

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $550

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting the following gene panel - Familial Hyperinsulinism.

Gene/s: HBA1 (Haemoglobin Alpha Locus 1) & HBA2 (Haemoglobin Alpha Locus 2)

Disease/s: Alpha thalassaemia

Region/Mutation analysed:  7 common alpha globin deletion regions.  Single gene deletion: -a3.7, -a4.2; Double gene deletion: --SEA, --FIL, --MED, -(a)20.5, --THAI

Method: GAP-PCR

Specimen: genomic DNA extracted from EDTA whole blood

Shipping: Ambient temperature

Turn-around: 2 weeks

Price: $100 (Please note this test is not covered by Medicare).

Other information: For further details on the test contact the laboratory on +61 7 3163 8500.

Gene: HLA B27

Disease/s: Ankylosing Spodylitis, reactive arthritis, juvenile rhuematoid arthiris, anterior uveitis

Region/Mutation analysed:  HLA-B gene (NM_005514)

Method: Sequence-specific oligonucleotides genotyping

Specimen: genomic DNA extracted from EDTA whole blood

Shipping: Ambient temperature

Turn-around: 1 week

Price: $40.55 (Please note this test may be covered by Medicare).

Other information: For further details on the test contact the laboratory on +61 7 3163 8500.

Gene: HNF1A

Disease/s: Maturity Onset Diabetes of the Young 3 (MODY 3).

Region/Mutation analysed: All exons and splice sites.

Method: Sanger Sequencing and MLPA

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4weeks.

Price: $745

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting one of the following gene panels - 1) Maturity Onset Diabetes of the Young (MODY) or 2) Neonatal Diabetes.

Gene: HNF1A

Disease/s: Maturity Onset Diabetes of the Young 3 (MODY 3).

Region/Mutation analysed: All exons and splice sites.

Method: Sanger Sequencing and MLPA

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $745

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting one of the following gene panels - 1) Maturity Onset Diabetes of the Young (MODY) or 2) Neonatal Diabetes.

Gene: HNF4A

Disease/s: Maturity Onset Diabetes of the Young 1 (MODY 1).

Region/Mutation analysed: All exons and splice sites.

Method: Sanger sequencing and MLPA

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $745

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting one of the following gene panels - 1) Maturity Onset Diabetes of the Young (MODY), 2) Neonatal Diabetes or 3) Familial Hyperinsulinism.

Gene: HPRT1

Disease/s: Lesch-Nyhan Syndrome.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger sequencing.

Specimen: 4 ml blood (EDTA) or 3µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4-6 weeks.

Price: $750

Gene: HSD17B3

Disease/s: Pseudohermaphroditism, male, with gynecomastia.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger sequencing

Specimen: 4 ml blood (EDTA) or 3µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4-6 weeks.

Price: $750

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting the following gene panel - 46,XY Disorders of Sex Development (DSD).

Gene/s: IGHG1 (Immunoglobulin Heavy Chain - IgH) & IGKC (Immunoglobulin Kappa Light Chain - IgK)

Disease/s: Various B-cell LPD associated with clonal IgH & IgK gene rearrangements including post-treatment monitoring

Region/Mutation analysed:  IgH: 6 VH-FR1 + JH, 7 VH-FR2 + JH, 7 VH-FR3 + JH; IgK: 6 Vk + 2 Jk, 6 Vk-Kde + intron-Kde

Method: Multiplex PCR + ABI fluorescence detection

Specimen: genomic DNA extracted from EDTA whole blood, bone marrow aspirate, FFPE tissues

Shipping: Ambient temperature

Turn-around: 2 weeks

Price: $299.00 (Please note this test is not covered by Medicare).

Other information: For further details on the test contact the laboratory on +61 7 3163 8500.

Gene: INS

Disease/s: Permanent Neonatal Diabetes (PND), MODY.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger sequencing

Specimen: 4 ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $250

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting one of the following gene panels - 1) Maturity Onset Diabetes of the Young (MODY) or 2) Neonatal Diabetes.

Gene: JAK2 (Janus Kinase 2)

Disease/s: Polycythemia Vera, Essential Thrombocythemia, Primary Myelofibrosis, Other disorders associated with JAK2 gene

Region/Mutation analysed:  JAK2 c.1849 G>T (p.Val617Phe)

Method: Allele-specific PCR

Specimen: genomic DNA extracted from EDTA whole blood

Shipping: Ambient temperature

Turn-around: 1 week

Price: $89.40 (Please note this test may be covered by Medicare).

Other information: For further details on the test contact the laboratory on +61 7 3163 8500.

Gene: KCNJ11

Disease/s: Persistent Hyperinsulinaemic Hypoglycaemia of Infancy (PHHI), Neonatal Diabetes.

Region/Mutation analysed: Coding region.

Method: Sanger sequencing

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $250

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting one of the following gene panels - 1) Maturity Onset Diabetes of the Young (MODY), 2) Neonatal Diabetes or 3) Familial Hyperinsulinism.

Gene: KRAS

Disease/s: Noonan Syndrome

Region/Mutation analysed: All exons and splice sites.

Method: Sanger sequencing

Specimen: 4 ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $250

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting one of the following gene panels - 1) RASopathy Syndromes, 2) Comprehensive Cardiomyopathy or 3) Hypertrophic Cardiomyopathy.

Gene: MC2R

Disease/s: Familial Glucocorticoid Deficiency 1 (FGD1).

Region/Mutation analysed: Coding region (Exon 2).

Method: Sanger sequencing

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $550

Gene: MC4R

Disease/s: Melanocortin 4 Receptor Deficiency, Obesity.

Region/Mutation analysed: Coding region.

Method: Sanger sequencing

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $550

Gene: MECP2

Disease/s: Rett Syndrome.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger sequencing and MLPA

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $450 (MLPA may be covered by Medicare)

Gene: NR5A1

Disease/s: Complete gonadal dysgenesis with and without adrenal failure.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger sequencing

Specimen: 4ml blood (EDTA) or 2µg genomic DNA

Shipping: Room temperature

Turn-around: 4 weeks.

Price: $550

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting the following gene panel - 46,XY Disorders of Sex Development (DSD).

Gene: OTC

Disease/s: Ornithine Transcarbamylase Deficiency.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger sequencing

Specimen: 4ml blood (EDTA) or 3µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4-6 weeks.

Price: $975

Gene: PML-RARa (Acute Promyelocytic Leukaemia Inducer - Retinoic Acid Rector Alpha fusion gene)

Disease/s: Acute Promyelocytic Leukaemia

Region/Mutation analysed:  PML-RARa fusion gene (p6r3) for BCR 1/2 transcript; PML-RARa fusion gene (p3r3) for BCR 3 transcript

Method: RT-PCR

Specimen: RNA in Trizol, or fresh EDTA for RNA extraction

Shipping: RNA in Trizol is shipped on dry ice, fresh EDTA is shipped at ambient temperature

Turn-around: 1 week

Price: $230.95 (Please note this test is not covered by Medicare).

Other information: For further details on the test contact the laboratory on +61 7 3163 8500.

Gene: PTPN11

Disease/s: Noonan Syndrome.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger sequencing

Specimen: 4ml blood (EDTA) or 3µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $800

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting one of the following gene panels - 1) RASopathy Syndromes, 2) Comprehensive Cardiomyopathy or 3) Hypertrophic Cardiomyopathy.

Gene: RAF1

Disease/s: Noonan Syndrome.

Region/Mutation analysed: Exons 7, 14, 17 and splice sites.

Method: Sanger sequencing

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $220

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting one of the following gene panels - 1) RASopathy Syndromes, 2) Comprehensive Cardiomyopathy, 3) Hypertrophic Cardiomyopathy or 4) Dilated Cardiomyopathy.

Gene: RIT1

Disease/s: Noonan Syndrome.

Region/Mutation analysed: All Exons and splice sites.

Method: Sanger sequencing

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $300

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting the following gene panel - RASopathy Syndromes.

Gene: SHOX

Disease/s: Idiopathic Short Stature, Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia

Region/Mutation analysed: All exons and splice sites.

Method: Sanger sequencing and MLPA

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $400

Gene: SOS1

Disease/s: Noonan Syndrome.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger sequencing

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $1500

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting one of the following gene panels - 1) RASopathy Syndromes, 2) Comprehensive Cardiomyopathy or 3) Hypertrophic Cardiomyopathy.

Gene: SRD5A2

Disease/s: 5-Alpha-reductase deficiency.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger sequencing

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $400

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting the following gene panel - 46,XY Disorders of Sex Development (DSD).

Gene: STAR

Disease/s: Lipoid Adrenal Hyperplasia. Familial Glucocorticoid Deficiency.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger sequencing

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $500

Other: Alternatively, this gene may be analysed by Next Generation Sequencing by requesting the following gene panel - 46,XY Disorders of Sex Development (DSD).

Gene: TRGC1 (T-Cell Receptor Gamma Gene)

Disease/s: T cell monoclonal populations associated with gamma gene rearrangements including post-treatment monitoring

Region/Mutation analysed:  T Cell Receptor gamma gene

Method: PCR

Specimen: genomic DNA extracted from EDTA whole blood, bone marrow aspirate, FFPE tissues

Shipping: Ambient temperature

Turn-around: 2 weeks

Price: $299.00 (Please note this test is not covered by Medicare).

Other information: For further details on the test contact the laboratory on +61 7 3163 8500.

Gene: UBE3A

Disease/s: Angelman Syndrome.

Region/Mutation analysed: All exons and splice sites.

Method: Sanger sequencing and MLPA

Specimen: 4ml blood (EDTA) or 2µg genomic DNA.

Shipping: Room temperature.

Turn-around: 4 weeks.

Price: $800 (MLPA may be covered by Medicare)