Pathology Test Details

Item	Details
Laboratory	St Vincent's Hospital Melbourne : Mitochondrial and Autoimmune Neurological Disorders (MAND) Laboratory - VIC
Test Name	NARP/LS m.8993T>C/G, ATPase 6 or MT-ATP6
Genes Tested	MT-ATP6
Test Description	Sequencing the entire ATPase 6 gene includes screening for the common variant(m.8993T>C/G associated with Neuropathy Ataxia Rentinitis Pigmentosa and Leigh's Syndrome.
Method	Sanger Sequencing
Test Type	single
Comment	Heteroplasmy, variant levels in blood are known to decrease over time and may not be detected. Heteroplasmic levels of less than 20% may not be detected.
Test Accreditation	Included In NATA Scope
Clinical Context	Heritable variants
Sample Required	Two or more samples of either blood >6mls EDTA, 10-20 hair follicles (root attached), 20-50 mls of first morning void urine delivered with 24h and/or stored cold.
Turn Around Time	4 weeks
Medicare Rebate	No Medicare rebate
Pathology Test Last Edit Date	3/07/2017 11:48:35 AM 03-Jul-2017

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