Mater Pathology

For DoctorsIndividual Gene Tests

Genetic Pathology - Individual Gene Tests:

 

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

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.

ABCC8 / SUR1 (ATP-Binding Cassette, Subfamily C, Member 8) - Sulfonylurea Receptor - MODY12 

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.

ADSL (Adenylosuccinate Lyase) 

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

AQP2 (Aquaporin 2)  

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

AR (Androgen Receptor)  

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).

AVP (Arginine Vasopressin) 

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

AVPR2 (Arginine Vasopressin Receptor 2)  

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

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

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.

BRAF (V-Raf Murine Sarcoma Viral Oncogene Homolog B1) 

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.

CYP21A2 (21-Hydroxylase)  

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

F2 (Coagulation Factor II) 

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.

F5 (Coagulation Factor V) 

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.

FMR1 (Fragile X Mental Retardation 1) 

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.

GCK (Glucokinase) - MODY2, Neonatal Diabetes and Hyperinsulinism 

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.

GLUD1 (Glutamate Dehydrogenase 1) 

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.

HBA1 and HBA2 (Haemoglobin Alpha Locus 1 & 2) 

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.

HLA B27 

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.

HNF1A (HNF1 Homeobox A) - MODY3 

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.

HNF1B (HNF1 Homeobox B) - MODY5, renal cysts and diabetes syndrome (RCAD) 

Gene: HNF1B

Disease/s: Maturity Onset Diabetes of the Young 5 (MODY 5), RCAD.

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.

HNF4A (Hepatocyte Nuclear Factor 4-alpha) - MODY1 

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.

HPRT1 (Hypoxanthine Phosphoribosyltransferase 1) 

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

HSD17B3 (17-Beta-hydroxysteroid Dehydrogenase -3)  

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).

IGHG1 and IGKC (Immunoglobulin Heavy Chain - IgH and Immunoglobulin Kappa Light Chain - IgK) 

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.

INS (Insulin) - MODY10, Permanent Neonatal Diabetes (PND)  

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.

JAK2 (Janus Kinas 2) 

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.

KCNJ11 (Potassium Channel, Inwardly Rectifying, Subfamily J, Member 11) - MODY 13 

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.

KRAS (Kirsten Rat Sarcoma Viral Oncogene Homolog) 

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.

MC2R / ACTHR (Melanocortin 2 Receptor) - ACTH Receptor 

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

MC4R (Melanocortin 4 Receptor) 

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

MECP2 (Methyl CpG Binding Protein 2) 

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)

NR5A1 (Nuclear Factor Subfamily 5, Group A, Member 1) - Steroidogenic Factor 1 

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).

OTC (Ornithine Carbamoyltransferase) 

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

PML-RARa (Acute Promyelocytic Leukamia Inducer - Retinoic Acid Rector Alpha Fusion Gene 

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.

PTPN11 (Protein-Tyrosine Phosphatase, Nonreceptor Type, 11) 

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.

RAF1 (Murine Leukemia Viral Oncogene Homolog 1) 

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.

RIT1 (Ric-Like Protein Without CAAX Motif 1) 

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.

SHOX (Short Stature Homeobox) 

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

SOS1 (Son of Sevenless Homolog 1) 

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.

SRD5A2 (Steroid 5-Alpha-Reductase) 

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).

STAR (Steroidogenic Acute Regulatory Protein) 

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).

TRGC1 (T-Cell Receptor Gamma Gene) 

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.

UBE3A (Ubiquitin-Protein Ligase E3A) 

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)

Contact information

For further information on the molecular genetic tests above please contact:

Doctor Liaison

Eammon Mottram ph: +61 466 777 828 email: eammon.mottram@mater.org.au

Laboratory

Mr Ivan McGown ph: +61 7 3163 6017 email: ivan.mcgown@mater.org.au   

Genetic Pathologist

Dr James Harraway ph: +61 7 3162 7679 email: james.harraway@mater.org.au

Specimen delivery

Please send any molecular genetic test specimens to:

Mater Pathology
Level 6, Mater Hospital Brisbane
Raymond Terrace
South Brisbane Qld 4101