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Molecular Genetics
Short Description : Molecular Genetics Information Page
Also known as : [Diagnostic Genetics - Molecular Genetics],[Mol Gen Lab],[Molgen]


Molecular Genetics Laboratory

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

Test List:

Angelman Syndrome Genetic Testing

Atypical Rett Syndrome/ CDKL5 Deficiency Disorder

Cardiac Inherited Disease Genetic Testing

Citrullinemia (ASS1) Type 1

Cowden Syndrome (PTEN)

DNA Isolation/Storage

Dystonia 6 (THAP1)

Fabry's 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)

Glycine Encephalopathy (GLDC)

GNAS Related Disorders (GNAS1)

Hereditary Breast and Ovarian Cancer

Hereditary Diffuse Gastric Cancer (CDH1)

Huntington Disease (HTT)

Li Fraumeni Syndrome (TP53)

Lynch Syndrome

Monogenic Diabetes Genetic Testing

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. 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.

Rett Syndrome (MECP2)

Spinal Muscular Atrophy (SMN1)

Von Hippel-Lindau Syndrome (VHL)

Wilson Disease

X-Linked Adrenoleukodystropy (ABCD1)

Turnaround Times

Download: - Diagnostic Genetics Brochure.pdf


Sendaway Tests

Please refer to our Diagnostic Genetics Sendaway Service Information Page

Diagnostic Genetics Sendaway Service


Notes

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


Last updated at 09:29:41 21/03/2024