The Cordon whole exome sequencing (WES) combines next-generation sequencing (NGS) with comprehensive case review and additional testing as needed.
NGS analysis covers SNP, insertion and deletion (SNP_In_Del) as well as copy number variation (CNV).
Method: Next generation sequencing
Gene tested: This assay (Whole exome sequencing) covers 20321 genes including 37 mitochondria genes.
Mitochondria genes:
ATP6, ATP8, CO1, CO2, CO3, CYB, ND1, ND2, ND3, ND4, ND4L, ND5, TY, ND6, RNR1, RNR2, TA, TC, TD, TE, TF, TG, TH, TI, TK, TL1, TL2, TM, TN, TP, TQ, TR, TS1, TS2, TT, TV, TW
Sensitivity: ≥ 99%
Specificity: 99.99%
Mean Coverage: >30x
Turnaround Time: 21 business days or less