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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 KSS/CPEO or Mitochondrial DNA deletions
Genes Tested CKMT1B
Test Description Mitochondrial DNA deletions associated with Kearns- Sayre Syndrome, autosomal dominant or recessive Chronic External Ophthalmoplegia are screened by Southern. Single or multiple deletions of the mitochondrial genome are detected. Victorian patients are not charged. The fee for interstate or overseas patients is $400.
Method Sanger Sequencing
Test Type Genomic
Comment In adults, age accumulation related deletions may be detected by PCR and in blood deletions may not be detected by Southern, thus the preferred tissue for screening deletions by Southern in adults, is muscle.
Test Accreditation Included In NATA Scope
Clinical Context Heritable variants
Sample Required Muscle - greater than or equal to 50 mg sent frozen on dry ice. Please contact laboratory prior to dispatch. Please ensure the laboratory requistion form with the patient's signed genetic consent is
Turn Around Time 3-6 months
Medicare Rebate No Medicare rebate
Pathology Test Last Edit Date 03/07/2017 11:48:35 AM