Diagnostics

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Achromatopsia Panel

The Achromatopsia Panel is a comprehensive next-generation sequencing (NGS) panel that can be used to confirm a clinical diagnosis of achromatopsia or identify at-risk individuals.

Achromatopsia is characterized by absence of color vision; individuals may have complete achromatopsia, in which they cannot perceive any colors, or incomplete achromatopsia, in which they may be able to discriminate between some colors. Individuals with achromatopsia may also have increased sensitivity to light, nystagmus, reduced visual acuity, hyperopia, or myopia. The symptoms of achromatopsia typically present within the first months of life.

Included Disorders

This panel includes genes associated with:

  • Achromatopsia
  • Cone-rod dystrophy
  • Juvenile macular degeneration

Prevalence

The prevalence of achromatopsia is 1 in 30,000 individuals (Kohl et al, 2004), and may be higher in certain populations.

Inheritance and Penetrance

Achromatopsia is typically inherited an autosomal recessive manner, and typically exhibits complete penetrance.

Clinical Sensitivity

Disease causing variants can be identified in approximately 75-90% of achromatopsia cases (Kohl et al, 2013). The Achromatopsia Panel includes all of the common genetic causes related to this disease.

Methodology and Analytical Sensitivity

Next-generation sequencing technology is used to test clinically relevant portions of each gene, including coding exons, adjacent flanking bases, and selected introns/noncoding variants. Pathogenic and likely pathogenic variants are confirmed by orthogonal methods. Copy number variants, including intragenic deletions and duplications are detected to a resolution of a single exon. To request analysis of a specific single exon copy number variant, please contact our Client Services team prior to ordering. Analytical sensitivity and specificity of the assay is >99%.

Indications for Testing

  • Confirmation of a clinical diagnosis
  • Individuals with loss of color vision
  • Risk assessment for asymptomatic family members of proband with molecular diagnosis of achromatopsia

Included genes (6)

ATF6 CNGB3 CNGA3 GNAT2 PDE6C PDE6H

 

References

  1. Kohl S, Jägle H, Wissinger B. Achromatopsia. 2004 Jun 24 [Updated 2016 Feb 25]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
  2. Kohl S, Hamel C. Clinical utility gene card for: Achromatopsia – update 2013. Eur J Hum Genet. 2013;21(11).