Genomic Unity® Retinal Disorders Analysis
Test Description
Test Code – UO002
Inherited retinal diseases (IRDs) are a clinically complex and heterogeneous group of disorders and are a common cause of visual impairment. Retinitis pigmentosa (RP) is the most common, however, there are more than 50 major IRD subtypes including cone-rod degeneration and Leber congenital amaurosis and achromatopsia (ACHM). Precise clinical diagnosis is challenging due to genetic heterogeneity and pleiotropy. Known genetic etiologies include monogenic and digenic changes ranging from single nucleotide variants to indels in both nuclear and mitochondrial genes – including variants in GC-rich and regulatory regions – as well as copy number variants and short tandem repeat expansion of the ATXN7 gene (cone-rod retinal dystrophy)1-8. An estimated 50% or more of pathogenic variants have been shown to be unique to the individual2. The impact of a genetic diagnosis for retinal disorder patients is particularly striking considering its influence on patient care, identifying patients who may benefit from novel gene-based therapies such as FDA-approved Luxterna and active clinical trials. A genetic diagnosis may also help avoid further unnecessary testing and provide information for family planning.
Genomic Unity® Retinal Disorders Analysis uses a whole genome sequencing platform to diagnose genetic causes of retinal disease in 357 nuclear genes and the entire mitochondrial genome.
When to order
Order this test when a person presents with clinical symptoms of retinal disorder. You also have the option to reflex up to Genomic Unity® Exome Analysis, Genomic Unity® Exome Plus Analysis or Genomic Unity® Whole Genome Analysis if targeted analysis is non-diagnostic.
Included Analyses
- Sequence analysis of retinal disorder-associated genes (single nucleotide variants, deletions, insertions, and characterized intronic variants).
- Copy number variant analysis of retinal disorder-associated genes (duplications/deletions, mobile element insertions including the common MAK gene Alu transposable element insertion4, and inversions).
- Mitochondrial genome sequence analysis (single nucleotide variants, deletions, insertions, and characterized regulatory variants) with heteroplasmy (≥5%) and large deletion analysis.
- Short tandem repeat (STR) analysis of the ATXN7 gene. (Learn more)
Optionally includes:
- Reflex to Genomic Unity® Exome Analysis, Genomic Unity® Exome Plus Analysis or Genomic Unity® Whole Genome Analysis
Included Genes
Mitochondrial 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
Test Performance
CPT Codes
81434, 81460, 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.
Accepted Specimens
Blood
5ml
Saliva
2ml
gDNA
5μg
Turnaround Time
A report will be issued within 4 weeks from receipt of required samples.
