Molecular Genetics Laboratory

To contact the Molecular Genetics team:

Test List:

Angelman Syndrome Genetic Testing

Cardiac Inherited Disease Genetic Testing

CDKL5 Deficiency Disorder

Citrullinemia (ASS1) Type 1

Cowden Syndrome (PTEN)

DNA Isolation/Storage

Fabry Disease (GLA)

Familial Adenomatous Plyposis (FAP)/ MUTHY-assciated polyposis (MAP)

Familial Phaeochromocytomas/Paraganglioma

FGFR3 Related Disorders (FGFR3)

FMR1 Related Disorders (Fragile X, FXTAS, FXPOI)

Galactosaemia (Classic and Duarte Variant, GALT)

GNAS Related Disorders (GNAS)

Hereditary Breast and Ovarian Cancer

Hereditary Diffuse Gastric Cancer (CDH1)

Hereditary Phaeochromocytoma/Paraganglioma

Huntington Disease (HTT)

Hypercalcemia (CYP24A1)

Li Fraumeni Syndrome (TP53)

Lynch Syndrome

Monogenic Diabetes Genetic Testing

Multiple Endocrine Neoplasia Type 2 (RET proto-oncogene)

Myotonic Dystrophy (DMPK)

Prader Willi Syndrome

Rett Syndrome (MECP2)

Spinal Muscular Atrophy (SMN1)

Targeted Variant Testing (ACADVL, ASS1, CPT1a, GALT, MFSD8, TPMT)

Wilson Disease

Predictive/Familial Variant Testing

Predictive/familial variant testing is available for genes which are currently tested in-house. Testing for variants in other genes may be available upon request, please contact the laboratory prior to specimen collection. The interpretation of the variant classification is performed if ?RECLASSIFICATION? is specifically stated on the request for the genotype positive case.

All Predictive Familial Variant Testing: (asymptomatic or pre-symptomatic) must be referred through Genetic Services.

Symptomatic Familial Variant Testing: can be ordered by an appropriate medical professional specialist.

Turnaround Times

• Predictive/familial variant analysis using sanger-based sequencing or digital droplet PCR: within 6 weeks
• Trinucleotide repeat expansion analysis: within 6 weeks
• MLPA and MS-MLPA analysis: within 6 weeks
• Hereditary cancer panel: within 8 weeks
• MODY gene panel: within 12 weeks
• Sanger-based full gene sequencing analysis: within 12 weeks
• Variant re-classification request: within 6 weeks

Download: - Diagnostic Genetics Brochure.pdf

Sendaway Tests

Please refer to our Diagnostic Genetics Sendaway Service Information Page

Diagnostic Genetics Sendaway Service

Transport all bloods between >8 degrees C to <24 degrees C within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at the temperatures stated above the following day.

For testing of other sample types please contact the laboratory prior to sending.

Notes

For other genetic tests please see:

Cytogenetics Information Page

Molecular Haematology Information Page

Download: Download - Laboratory Request Form Diagnostic Genetics.pdf