Genomic Unity® Mitochondrial Genome Sequence Analysis
Genomic Unity® Mitochondrial Genome Sequence Analysis is a diagnostic test designed to identify mitochondrial variants that cause mitochondrial disorders.
- Test Description
- When to Order
- Included Genes
- Included Analyses
- Turnaround Time
- Sample Types
- CPT Codes
- Methods and Limitations
Test Description
Genomic Unity® Mitochondrial Genome Sequence Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on analysis of 37 mitochondrial genes associated with mitochondrial disorders.
Genomic Unity® Mitochondrial Genome Sequence Analysis provides a clinical report focused on small sequence changes. In cases where the results are non-diagnostic, sequential testing can extend analysis of the original sample to include large mitochondrial deletions. Reflex options extend analysis of the original sample to include the nuclear exome and genome.
When to Order
Order this test when clinical symptoms affect multiple organ systems and are suggestive of a mitochondrial disorder.
Included 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
Included Analyses
Mitochondrial genome sequence analysis with heteroplasmy (≥5%) including: single nucleotide variants, deletions, insertions, and characterized regulatory variants.
Optionally includes:
- Reflex to Genomic Unity® Exome Analysis, Genomic Unity® Exome Plus Analysis, or Genomic Unity® Whole Genome Analysis.
- Genomic Unity® Pharmacogenomics Analysis.
Turnaround Time
A report will be issued within 4 weeks from receipt of required samples.
Sample Types
-
Blood5ml – Specimen requirements
-
Saliva
2ml – Specimen requirements
-
gDNA
5μg – Specimen requirements
CPT Codes
81460
The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Methods and Limitations
Genomic Unity® Mitochondrial Genome Sequence Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.
SNVs:
>99.2% sensitivity
>99.9% specificity
>99.9% positive predictive value