The Molecular Genetics division of Diagnostic Genetics, based in LabPlus, Auckland City Hospital, was established in 1994. The laboratory performs in excess of 1500 tests per annum.
Techniques currently employed by the Molecular Genetics Laboratory include:
Contact Molecular Genetics via:
Lablink ext 22000
Mark Greenslade (Technical Head) ext 22010
Pippa Grainger (Section leader) ext 22014
Angelman Syndrome Genetic Testing
Atypical Rett Syndrome/ CDKL5 Deficiency Disorder
Becker Muscular Dystrophy (DMD)
Cardiac Inherited Disease Genetic Testing
Citrullinemia (ASS1) Type 1
Duchenne Muscular Dystrophy (DMD)
Dystonia 6 (THAP1)
E-Cadherin Related Gastric Cancer (CDH1)
Fabry's Disease (GLA)
Familial Adenomatous Polyposis (APC)
FGFR3 Related Disorders (FGFR3)
FMR1 Related Disorders (Fragile X, FXTAS, FXPOI)
Galactosaemia (Classic and Duarte Variant, GALT)
Glycine Encephalopathy (GLDC)
GNAS Related Disorders (GNAS1)
Hereditary Breast and Ovarian Cancer (ATM, BRCA1, BRCA2, PALB2, PTEN, TP53)
Hereditary Diffuse Gastric Cancer (CDH1)
Huntington Disease (HTT)
Maturity Onset Diabetes of the Young (1,2,3,5) (HNF4a, GCK, HNF1a, HNF1b)
Multiple Endocrine Neoplasia Type 2 (RET proto-oncogene)
Myoclonus Dystonia (SGCE, DYT11)
Myotonic Dystrophy (DMPK)
Phaeochromocytomas/Paraganglioma (SDHAF2, SDHB, SDHC, SDHD, MAX, TMEM127, VHL)
Prader Willi Syndrome
Predictive/Familial Variant Testing
Targeted sequencing for 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.
All Predictive Familial Variant Testing: (asymptomatic or pre-symptomatic) must be referred through Genetic Services. In urgent situations where Genetic Services cannot provide a consultation within a clinically appropriate time frame, predictive testing can be done after discussion with the Clinical Director or Technical Head of Diagnostic Genetics.
Symptomatic Familial Variant Testing: can be ordered by an appropriate medical professional specialist.
Rett Syndrome (MECP2)
Spinal Muscular Atrophy (SMN1)
Von Hippel-Lindau Syndrome (VHL)
X-Linked Adrenoleukodystropy (ABCD1)
Download: - Diagnostic Genetics Brochure.pdf
Diagnostic Genetics Sendaway Service
For other genetic tests please see:
Cytogenetics Information Page
Molecular Haematology Information Page
SPECIMEN: Minimum of 4.0 mL blood. EDTA tube. For paediatric samples a minimum of 0.5 mL blood EDTA can be processed. For other samples, please contact the laboratory.
DNA EXTRACTION AND STORAGE
DNA Banking Facility
The Molecular Genetics Laboratory can extract DNA and cryopreserve it until further required.
Download: Download - Laboratory Request Form Diagnostic Genetics.pdf