Genomic Unity® Mitochondrial Genome Deletions Analysis

MD003

Genomic Unity® Mitochondrial Deletions Analysis is a diagnostic test designed to identify large mitochondrial deletions that cause mitochondrial disorders.

Test Description

Genomic Unity® Mitochondrial Deletions 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 large deletion analysis of the mitochondrial genome.

Genomic Unity® Mitochondrial Deletions Analysis provides a clinical report focused on mitochondrial deletions. In cases where the results are non-diagnostic, sequential testing can extend analysis of nuclear genes associated with mitochondrial diseases. Reflex options extend analysis of the original sample to include the nuclear exome and genome.

Learn More About Mitochondrial Disorder Testing With Variantyx

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

  • Deletions analysis of the mitochondrial genome

Optionally includes:

Turnaround Time

A report will be issued within 4 weeks from receipt of required samples.

Sample Types

CPT Codes

81465

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 Deletions Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

Deletions:
96% clinical sensitivity