Test Description

Test Description

Order Options:
  • Sequencing (included)
  • Del/Dup (included)
  • MCC
Turnaround Time:
3 – 5 weeks
Cost:
Call for details
Genes:
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, 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-TW, MT-TY ( 37 genes )
Coverage:
99% at 1000x
Specimen Requirements:
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
Test Limitations:
All sequencing technologies have limitations. This analysis is performed by PCR amplification of mitochondrial DNA and Next Generation Sequencing (NGS). This analysis is designed to examine all 37 mtDNA genes and utilizes overlapping primer sets to cover all 16,569 nucleotides. This assay has been validated for the detection of mitochondrial DNA heteroplasmy at a minimum level of 2-5%. This assay is not designed or validated for the detection of mutations occurring in nuclear-encoded genes.