Autosomal Recessive Retinitis Pigmentosa via the FLVCR1 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
4897 FLVCR1$890 8147981479,81479 Add to Order

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

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

For Reflex to PGxome pricing click here.

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing 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) or rod cone dystrophies (RCDs) represent a group of hereditary retinal dystrophies with a worldwide prevalence of ~1 in 4000 (Booij et al. 2005). 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). FLVCR1-associated RP is characterized by posterior column ataxia and retinitis pigmentosa (Rajadhyaksha et al. 2010).

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 involved with AD RP, AR RP, and XL RP, respectively (RetNet). Pathogenic variants in FLVCR1 have been documented causative for AR RP (Liu et al. 2015). FLVCR1-encoded protein is a mammalian heme transporter with highest expression in the retina. This protein is required for erythroid differentiation, indicating that heme export is important in primary cells at this stage to protect them from heme toxicity (Quigley et al. 2004; Rajadhyaksha et al. 2010). So far, about 10 pathogenic variants (missense, splicing and small deletions) have been reported in FLVCR1-associated RP (The Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the FLVCR1 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

Sensitivity data are limited. Mutation screening in a cohort of 20 Chinese families affected by autosomal recessive inherited retinal dystrophy, identified homozygous and biallelic variants in 11 of the 20 families (55%). Out of the 11 families, one family had causative variants in FLVCR1 (5%) (Liu et al. 2015).

Indications for Test

All patients with symptoms suggestive of Retinitis pigmentosa are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in FLVCR1.

Gene

Official Gene Symbol OMIM ID
FLVCR1 609144
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Posterior Column Ataxia With Retinitis Pigmentosa AR 609033

Related Test

Name
Retinitis Pigmentosa (includes RPGR ORF15) Panel

Citations

  • Booij J.C. et al. 2005. Journal of Medical Genetics. 42: e67. PubMed ID: 16272259
  • Human Gene Mutation Database (Bio-base).
  • Liu X. et al. 2015. Jama Ophthalmology. 133: 427-36. PubMed ID: 25611614
  • Quigley J.G. et al. 2004. Cell. 118: 757-66. PubMed ID: 15369674
  • Rajadhyaksha A.M. et al. 2010. American Journal of Human Genetics. 87: 643-54. PubMed ID: 21070897
  • RetNet
  • Van Soest S., Westerveld A. 1999. Survey of ophthalmology. 43: 321-34. 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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