| Special Notes: |
Unlike traditional direct sequence analysis, massively parallel sequencing provides thousands of reads for each nucleotide position of the entire 16,569 bp mitochondrial genome. The high-throughput sequence data generated by massively parallel sequencing enables a more accurate quantification of low-level mtDNA heteroplasmy sequence changes and detection of deletions with breakpoints.
The detection threshold of massively parallel sequencing analysis for heteroplasmic mitochondrial DNA point mutations is approximately 1.5% for the Illumina HiSeq 2000 platform. If targeted sequencing analysis is required for matrilineal family members, please order test code #3056 (targeted Sanger sequence, no heteroplasmy quantification), or test code #2056 (targeted massively parallel sequencing with heteroplasmy quantification).
The following subsets of MitoNGS can be ordered separately:
- Advanced mtDNA Point Mutations and Deletions by Massively Parallel Sequencing (BCM-MitomeNGSSM) (#2010)
- Mitochondrial Nonsyndromic Hearing Loss and Deafness Mutation Panel (#3030)
Gene Product
MT-ATP8 ATP synthase, Fo subunit 8 (complex V)
MT-ATP6 ATP synthase, Fo subunit 6 (complex V)
MT-CO1 Cytochrome c oxidase, subunit 1 (complex IV)
MT-CO2 Cytochrome c oxidase, subunit 2 (complex IV)
MT-CO3 Cytochrome c oxidase, subunit 3 (complex IV)
MT-CYB Cytochrome b (complex III)
MT-ND1 NADH dehydrogenase, subunit 1 (complex I)
MT-ND2 NADH dehydrogenase, subunit 2 (complex I)
MT-ND3 NADH dehydrogenase, subunit 3 (complex I)
MT-ND4L NADH dehydrogenase, subunit 4L (complex I)
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TA tRNA-Alanine (Ala or A)
MT-TR tRNA-Arginine (Arg or R)
MT-TN tRNA-Asparagine (Asn or N)
MT-TD tRNA-Aspartic acid (Asp or D)
MT-TC tRNA-Cysteine (Cys or C)
MT-TE tRNA-Glutamic acid (Glu or E)
MT-TQ tRNA-Glutamine (Gln or Q)
MT-TG tRNA-Glycine (Gly or G)
MT-TH tRNA-Histidine (His or H)
MT-TI tRNA-Isoleucine (Ile or I)
MT-TL1 tRNA-Leucine (Leu-UUR or L)
MT-TL2 tRNA-Leucine (Leu-CUN or L)
MT-TK tRNA-Lysine (Lys or K)
MT-TM tRNA-Methionine (Met or M)
MT-TF tRNA-Phenylalanine (Phe or F)
MT-TP tRNA-Proline (Pro or P)
MT-TS1 tRNA-Serine (Ser-UCN or S)
MT-TS2 tRNA-Serine (Ser-AGY or S)
MT-TT tRNA-Threonine (Thr or T)
MT-TW tRNA-Tryptophan (Trp or W)
MT-TY tRNA-Tyrosine (Tyr or Y)
MT-TV tRNA-Valine (Val or V)
MT-RNR1 Small subunit : SSU (12S)
MT-RNR2 Large subunit : LSU (16S)
|
