GTD Indications
Diagnosis
Carrier / Cascade Testing
Prenatal
GTD Samples Accepted
Blood
DNA
Cultured Cells
Amniocyte
CVS
GTD Test Methodology
Sequencing
GTD Methodology Notes
NGS
Generic Test name (cms title)
Mitochondrial nuclear gene
GTD Test type
Gene Panel
GTD Location
Hamilton Health Sciences Centre
GTD Gene/Platform/Region List
AARS2, ABCB7, ACADVL, ADCK3, APTX, BCS1L, BOLA3, C10orf2, CLPP, COQ2, COQ4, COQ9, COX10, CPT2, DARS2, DGUOK, DNA2, DNAJC19, DNM1L, ETFA, ETFB, ETFDH, ETHE1, FXN, GFER, GFM1, GLRX1 (GLRX2), GLRX5, HADHA, HARS2, HSD17B1, HSPD1, IARS, IARS2, ISCU, LARS2, MARS2, MFN2, MPV17, MRPS16, MRPS22, NFU1, OPA1, PDHA1, PDSS1, PDSS2, POLG, POLG2, PUS1, RARS2, RMRP, RRM2B, SACS, SARS2, SDHA, SDHAF1, SDHB, SDHD, SETX, SLC25A4, SPG7, SUCLA2, SUCLG1, TAZ, TIMM8A, TK2, TSFM, TUFM, TWNK, TYMP, YARS2
GTD Category
Mitochondrial
GTD Disease/Condition
Kearns-Sayre Syndrome, Leber's Hereditary Optic Neuropathy (LHON), MELAS, myoclonic epilepsy with ragged red fibers (MERRF), neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP), Pearson marrow pancreas syndrome, Progressive external ophthalmoplegia (PEO), Hepatocerebral mtDNA depletion syndrome (Deoxyguansine kinase deficiency (DGUOK)), Myopathic mtDNA depletion syndrome (Thymidine kinase deficiency (TK2)), SANDO syndrome, ALPERS syndrome, SCAE syndrome, familial PEO