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Details of Pathology Test

Item Details
Laboratory Concord Repatriation General Hospital : Molecular Medicine Laboratory - NSW
Test Name Congenital Mysthenic Syndromes (CMS) Test- NGS Panel
Genes Tested Please refer to the test description
Test Description Analysis of coding exons of current candidate genes responsible for Congenital Mysthenic Syndrome (CMS). Partial extraction of whole exome sequencing data.
Method Massively parallel sequencing using the Agilent SureSelect Human All Exon kit with Illumina HiSeq 2000 Sequencer
Test Type Genomic
Comment Sanger sequencing validation of disease causing variant and segregation analysis (if required to determine pathogenicity) is included. Analysis of specific genes can be requested.
Test Accreditation Not In NATA Scope
Clinical Context Heritable variants, Somatic mutation
Sample Required 5 ml of EDTA whole blood or 5 micrograms of DNA.
Turn Around Time 12 weeks
Medicare Rebate No Medicare rebate
Pathology Test Last Edit Date 03/07/2017 10:24:43 AM