Diagnostics

Learn how our advanced genetic tests are revolutionizing health

Retinitis Pigmentosa Panel

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

Retinitis pigmentosa is a group of related disorders that result in progressive vision loss due to deterioration of the light sensing cells in the retina. Onset of vision loss typically begins in the childhood. The disease starts with loss of night vision, and progressively worsens including loss of peripheral to central vision. Affected individuals typically become legally blind by adulthood. Retinitis pigmentosa may occur in isolation, or be part of a syndrome, including Bardet-Biedl and Usher syndrome.

Included disorders

This panel includes genes associated with:

  • Retinitis pigmentosa
  • Leber congenital amaurosis
  • Usher syndrome
  • Cone-rod dystrophy
  • Oguchi disease
  • Newfoundland Rod-cone dystrophy
  • Vitelliform macular dystrophy

Prevalence

The prevalence of retinitis pigmentosa is 1 in 3,500 to 1 in 4,000 individuals (Haim, 2002), although it may be higher in some populations.

Inheritance and Penetrance

Retinitis pigmentosa is inherited in autosomal dominant, autosomal recessive, and X-linked fashions.

Clinical Sensitivity

Disease causing variants can be identified in approximately 70% of autosomal dominant, 30% of autosomal recessive, and 90% of X-linked retinitis pigmentosa cases (Daiger et al, 2013). The Retinitis Pigmentosa Panel includes all of the common genetic causes related to these diseases.

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
  • Risk assessment for asymptomatic family members of proband with molecular diagnosis of retinitis pigmentosa

Included genes (72)

ABCA4 CLRN1 HGSNAT MERTK PRPF6 RPGRIP1
ABHD12 CNGA1 HK1 MVK PRPF8 SAG
ARL6 CNGB1 IDH3B NMNAT1 PRPH2 SEMA4A
BBS1 CRB1 IFT140 NR2E3 RBP3 SNRNP200
BBS2 CRX IFT172 NRL RDH12 SPATA7
BEST1 CYP4V2 IMPDH1 PDE6A RGR TOPORS
C2ORF71 DHDDS IMPG2 PDE6B RHO TRNT1
C8ORF37 EMC1 KIZ PDE6G RLBP1 TTC8
CA4 EYS KLHL7 PRCD RP1 TULP1
CDHR1 FAM161A LCA5 PROM1 RP2 USH2A
CEP290 FLVCR1 LRAT PRPF3 RPE65 WDR19
CERKL GUCY2D MAK PRPF31 RPGR ZNF513

 

Additions to the Retinitis Pigmentosa Panel

Emerging evidence genes can also be added to the Retinitis Pigmentosa Panel. These genes do not have a clear association with retinitis pigmentosa, but emerging evidence suggests that they may play a role in disease pathogenesis.

Emerging Evidence Genes (11)

AIPL1 FSCN2 KIAA1549 ROM1 SLC7A14 ZNF408
DHX38 GUCA1B NEK2 RP9 SPP2
 

References

  1. Daiger SP, Sullivan LS, Bowne SJ. Genes and mutations causing retinitis pigmentosa. Clin Genet. 2013;84(2):132-41.
  2. Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl. 2002;(233):1-34.