The Molecular Genetics division of Diagnostic Genetics, based in LabPlus, Auckland City Hospital, was established in 1994. Techniques currently employed by the Molecular Genetics Laboratory include:
To contact the Molecular Genetics team:
Auckland City Hospital
(09) 307 4949
Lablink
ext 22000
Molecular Genetics Office
ext 22014
Angelman Syndrome Genetic Testing
Atypical Rett Syndrome/ CDKL5 Deficiency Disorder
Cardiac Inherited Disease Genetic Testing
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 (GNAS1)
Hereditary Breast and Ovarian Cancer
Hereditary Diffuse Gastric Cancer (CDH1)
Monogenic Diabetes Genetic Testing
Multiple Endocrine Neoplasia Type 2 (RET proto-oncogene)
Myoclonus Dystonia (SGCE, DYT11)
Phaeochromocytomas/Paraganglioma (SDHAF2, SDHB, SDHC, SDHD, MAX, TMEM127, VHL)
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. The interpretation of the variant classification is performed if 'RECLASSIFICATION' is specifically stated on the request for the genotype positive case
Symptomatic Familial Variant Testing: can be ordered by an appropriate medical professional specialist.
Variant re-classification request: interpretation of the variant classification is performed through Genetic Services or Cardiac Inherited Disease Group referral.
Spinal Muscular Atrophy (SMN1)
Download: - Diagnostic Genetics Brochure.pdf
For other genetic tests please see:
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