|
Alternate Name(s):
|
DNA Mitochondria, mtDNA, MELAS, LNON, MERRF, NARP.
Testing for mitochondrial diseases in a 37 gene NGS panel.
|
|
Reference Interval:
|
Heteroplasmic point mutations present in at least 5% of the genomes can be detected.
|
|
Turnaround Time:
|
12 weeks
|
|
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.
|
|
Method of Analysis:
|
High Depth of Coverge Next Generation Sequencing (NGS)
|
|
Test was Last Updated:
|
3/20/2025
|
|
Testing Laboratory:
|
Clinical Genetics
|
|
Testing Site:
|
JHCC
|