Genomic Unity® Hearing Loss Disorders Analysis

Test Description

Test Code – UO003

80% of prelingual hearing loss are attributable to genetic causes. Likewise, a genetic cause can be identified in a significant proportion of individuals with adult-onset hearing loss. These are divided into cases of non-syndromic (70% of prelingual genetic hearing loss) and syndromic (30% of prelingual genetic hearing loss). Genetic causes are highly heterogeneous, spanning hundreds of genes and including multiple known genetic etiologies: monogenic and mitochondrial changes ranging from single nucleotide variants to indels as well as copy number variants (representing as high as 20% of diagnosed cases). The impact of a genetic diagnosis for hearing loss patients and family members can lead to changes in clinical management including habilitation which for children can be critical for speech and language acquisition. It can also inform therapeutic and prognostic aspects (static versus progressive hearing impairment, whether hearing loss is nonsyndromic or syndromic), help avoid further unnecessary testing and provide information for family planning.

Genomic Unity® Hearing Loss Disorders Analysis uses a whole genome sequencing platform to diagnose genetic causes of hearing loss in 281 nuclear genes combined with mitochondrial genome analysis.

When to order

Order this test when a person presents with clinical symptoms of hearing loss. You also have the option to reflex up to Genomic Unity® Exome AnalysisGenomic Unity® Exome Plus Analysis or Genomic Unity® Whole Genome Analysis if targeted analysis is non-diagnostic.

Included Analyses

  • Sequence analysis of hearing loss-associated genes (single nucleotide variants, deletions, insertions, and characterized intronic variants)
  • Copy number variant analysis of hearing loss-associated genes (duplications/deletions, mobile element insertions, and inversions)
  • Mitochondrial genome analysis (single nucleotide variants and deletions, insertions) with heteroplasmy (≥5%) and large deletion analysis.

Optionally includes:

Included Genes

The ADCY1, COL4A6, KCNE1, TPRN and USH1C (intron 5 VNTR EXP[9] polymorphism) genes are not fully covered by this test, therefore not all pathogenic variants may be detected. The KCNE1, OTOA, and STRC genes contain regions that are non-unique, therefore not all variants can be assigned to the correct location, limiting interpretation. However, the STRC gene uniquely mappable regions, containing exons 19-26 (chr15:43600672-43605413), are used to determine the overall copy count of the STRC gene and will be interpreted with this test. The TBX1 gene related repeat expansion is not included in this analysis.

Test Performance

 %
Sensitivity for SNVs
 >  %
Specificity for SNVs
 %
Positive predictive value for SNVs
 %
Clinical sensitivity for structural variants

CPT Codes

81430, 81431

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

Accepted Specimens

Blood

5ml

Specimen Requirements

Saliva

2ml

Specimen Requirements

gDNA

5μg

Specimen Requirements

Turnaround Time

A report will be issued within 4-8 weeks from receipt of all sample requirements.