Autosomal Recessive Retinitis Pigmentosa 77 (RP77) via the REEP6 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesPrice Test CPT CodeGene CPT Codes Copy CPT Codes STAT Prenatal
10487 REEP6$890 8147981479,81479 Add to Order

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Retinitis pigmentosa (RP) represents a group of hereditary retinal dystrophies with a worldwide prevalence of ~1 in 4,000 (Booij et al. 2005. PubMed ID: 16272259). RP is clinically characterized by retinal pigment deposits visible on fundus examination, nyctalopia ("night blindness"), followed by progressive degeneration of the photoreceptors, which eventually leads to blindness (van Soest et al. 1999. PubMed ID: 10025514).

Genetics

Nonsyndromic RP is remarkably heterogeneous both clinically and genetically and exhibits autosomal dominant (AD), autosomal recessive (AR) or X-linked (XL) inheritance. To date, over 50 loci have been linked to nonsyndromic RP and 18, 27 and 2 genes have been identified that are associated with AD, AR, and XL RP, respectively (RetNet).

Pathogenic variants in REEP6 have been documented causative for autosomal recessive Retinitis pigmentosa (Arno et al. 2016. PubMed ID: 27889058). REEP6 encodes a putative endoplasmic reticulum (ER) shaping factor called Receptor Expression Enhancer Protein 6, which is highly expressed in rod photoreceptor cells of developing and mature retina (Arno et al. 2016. PubMed ID: 27889058; Hao et al. 2014. PubMed ID: 24691551). The REEP6 protein is a key functional target of the Maf-family leucine zipper transcription factor NRL in rod photoreceptors and probably plays a role in trafficking of membrane proteins such as GPCRs (G-protein coupled receptors) to distinct cellular compartments (Hao et al. 2014. PubMed ID: 24691551). To date, ~ 5 pathogenic variants (missense and small frameshift deletion/duplications) in REEP6 have been connected to RP (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the REEP6 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV

Predicting clinical sensitivity for the REEP6 gene is challenging due to genetic heterogeneity of retinal disorders and also due to the limited number of REEP6-associated retinitis pigmentosa cases.

Indications for Test

All patients with symptoms suggestive of RP are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in REEP6.

Gene

Official Gene Symbol OMIM ID
REEP6 609346
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Retinitis Pigmentosa 77 AR 617304

Citations

  • Arno et al. 2016. PubMed ID: 27889058
  • Booij et al. 2005. PubMed ID: 16272259
  • Hao et al. 2014. PubMed ID: 24691551
  • Human Gene Mutation Database (Bio-base).
  • RetNet: Genes and Mapped Loci Causing Retinal Diseases.
  • van Soest et al. 1999. PubMed ID: 10025514

Ordering/Specimens

Ordering Options

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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