Gene panel tests

15q11 critical region for Prader-Willi Syndrome and Angelman Syndrome (MS-MLPA)
ABCC8 / SUR1 (ATP-Binding Cassette, Subfamily C, Member 8) - Sulfonylurea Receptor - MODY12
ADSL (Adenylosuccinate Lyase)
AQP2 (Aquaporin 2)
AR (Androgen Receptor)
AVP (Arginine Vasopressin)
AVPR2 (Arginine Vasopressin Receptor 2)
BCR-ABL (Breakpoint Cluster Region - Abelson Murine Leukaemia Viral Oncogene Homolog 1 fusion gene)
BRAF (V-Raf Murine Sarcoma Viral Oncogene Homolog B1)
CYP21A2 (21-Hydroxylase)
F2 (Coagulation Factor II)
F5 (Coagulation Factor V)
FMR1 (Fragile X Mental Retardation 1)
GCK (Glucokinase) - MODY2, Neonatal Diabetes and Hyperinsulinism
GLUD1 (Glutamate Dehydrogenase 1)
HBA1 and HBA2 (Haemaoglobin Alpha Locus 1 and 2)
HNF1A (HNF1 Homeobox A) - MODY 3
HNF1B (HNF1 Homeobox B) - MODY 5, renal cysts and diabetes syndrome (RCAD)
HNF4A (Hepatocyte Nuclear Factor 4-alpha ) - MODY1
HPRT1 (Hypoxanthine Phosphoribosyltransferase 1)
HSD17B3 (17-Beta-hydroxysteroid Dehydrogenase-3)
IGHG1 and IGKC (Immunoglobulin Heavy Chain - IgH and Immunoglobulin Kappa Light Chain - IgK)
INS (Insulin) - MODY10, Permanent Neonatal Diabetes (PND)
JAK2 (Janus Kinas 2)
KCNJ11 (Potassium Channel, Inwardly Rectifying, Subfamily J, Member 11)- MODY 13
KRAS (Kristen Rat Sarcoma Viral Oncogene Homolog)
MC2R / ACTHR (Melanocortin 2 Receptor) - ACTH Receptor
MC4R (Melanocortin 4 Receptor)
MECP2 (Methyl CpG Binding Protein 2)
NR5A1 (Nuclear Factor Subfamily 5, Group A, Member 1) - Steroidogenic Factor 1
OTC (Ornithine Carbamoyltransferase)
PML-RARa (Acute Promyelocytic Leukamia Inducer - Retinoic Acid Receptor Alpha Fusion Gene)
PTPN11 (Protein-Tyrosine Phosphatase, Nonreceptor Type, 11)
RAF1 (Murine Leukemia Viral Oncogene Homolog 1)
RIT1 (Ric-Like Protein without CAAX Motif 1)
SHOX (Short Stature Homeobox)
SOS1 (Son of Sevenless Homolog 1)
SRD5A2 (Steroid 5-Alpha-Reductase)
STAR (Steroidogenic Acute Regulatory Protein)
TRGC1 (T-Cell Receptor Gamma Gene)
UBE3A (Ubiquitin-Protein Ligase E3A)

Contact information

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


For enquiries call 07 3163 8996 or email 

Genetic pathologist

Dr James Harraway, call 07 3162 7679 or email

Specimen delivery

Please send any molecular genetic test specimens to:

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