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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 – 4 ml lavender EDTA tube
DNA – minimum 2 µg
Frozen Muscle – 30-50 mg
Fibroblasts – 1 x T25 confluent flask, back-up culture required
Urine – 20-80 ml first-catch urine, fresh not frozen, no preservatives
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Collection Information: |
Blood, DNA, fibroblasts, and urine please ship at room temperature.
Frozen muscle ship on dry ice (keep frozen).
Do not refrigerate/freeze urine before shipping.
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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: |
3/20/2025
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Testing Laboratory: |
Clinical Genetics
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Testing Site: |
JHCC
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