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Alternate Name: |
DNA Mitochondria, mtDNA, MELAS, LNON, MERRF, NARP.
Testing for mitochondrial diseases in a 37 gene NGS panel.
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Specimen Type: |
One of the following specimen types is required:
Blood - 5 ml Lavender EDTA tube
DNA - At least 5ug (minimal concentration of 50ng/uL)
Muscle - 30-50mg
Fibroblast - Tissue culture dish 100 x 200mm
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Collection Information: |
Transport at room temperature.
Muscle samples should be kept on ice.
Blood Samples can be stored in the fridge (4ºC) for up to one week before shipping.
All other sample types need to be shipped overnight.
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Required Information: |
Please see OHIP reimbursement Criteria at www.mitodx.ca
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Reference Interval: |
Heteroplasmic point mutations present in at least 5% of the genomes can be detected.
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Turnaround Time: |
12 weeks
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Additional Information: |
Testing for mitochondrial diseases in a 37 gene NGS panel.
Genes Tested in Panel: MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MD-CYB, MT-CO1, MT-CO2, MT-CO3, MT-ATP6, MT-ATP8, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-T2, MT-TY. For any inquiries, please contact moleculargenetics@hhsc.ca.
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Method of Analysis: |
High Depth of Coverge Next Generation Sequencing (NGS)
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Test was Last Updated: |
7/29/2024
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Testing Laboratory: |
Molecular Diagnostic Genetics
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Testing Site: |
JHCC
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