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Details of Pathology Test

Item Details
Laboratory St Vincent's Hospital Melbourne : Mitochondrial and Autoimmune Neurological Disorders (MAND) Laboratory - VIC
Test Name Leber''s Hereditary Optic Neuropathy, LHON 3460, 11778, 14484
Genes Tested MT-ND1,MT-ND4,MT-ND5
Test Description This multiplex assay detects the three most common primary variants associated with Leber's Hereditary Optic Neuropathy, m.3460A>G, 11778G>A and 14484T>C. These three primary variants account for approximately 95% of cases.
Method Multiplex PCR/RFLP and Sanger Sequencing
Test Type SNP
Comment Heteroplasmy variant levels of less than 4% may not be detected by PCR-RFLP. Sequencing is used to confirm the presence of the variant.
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 03/07/2017 11:48:35 AM