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Autosomal Recessive Retinitis Pigmentosa (RP28) via the FAM161A Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7645 FAM161A 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7645FAM161A81479 81479,81479 $990 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Testing run on PG-Select capture probes does not include exome-wide CNV analysis. Reflex is available to PGxome or an exome-based panel, or you can use this gene list to create a custom panel (click here).

Click here for costs to reflex to whole PGxome.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

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

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Dana Talsness, PhD

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 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 involved with AD, AR, and XL forms, respectively (RetNet).

Pathogenic variants in FAM161A have been documented causative for autosomal recessive Retinitis Pigmentosa (Bandah-Rozenfeld et al. 2010. PubMed ID: 20705279; Langmann et al. 2010. PubMed ID: 20705278). The FAM161A protein is highly expressed in retina (Bandah-Rozenfeld et al. 2010. PubMed ID: 20705279; Langmann et al. 2010. PubMed ID: 20705278). Mouse model studies suggest that FAM161A is crucial in the structural composition, maintenance and function of the connecting cilium and participates in the molecular delivery into the outer segment cilium. This process is essential for outer segment disk formation and ultimately visual function (Karlstetter et al. 2014. PubMed ID: 24833722). So far, about 15 pathogenic variants (missense, nonsense, splicing and small frameshift deletions) have been reported in FAM161A-associated Retinitis Pigmentosa (RP28) (The Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PG-Select

It has been reported that loss-of-function variants in FAM161A are a major cause of autosomal recessive Retinitis Pigmentosa, accounting for ~12% of patients from Israel and the Palestinian territories. Variants c.1355_1356del (p.Thr452Serfs*3) and c.1567C>T (p.Arg523*) have been reported as founder variants in the in the Israeli Jewish population (Bandah-Rozenfeld et al. 2010. PubMed ID: 20705279). FAM161A accounts for ~1% of recessive RP cases in North America, and Germany (Venturini et al. 2014. PubMed ID: 24651477).

Testing Strategy

This test provides full coverage of all coding exons of the FAM161A gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

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 FAM161A.

Gene

Official Gene Symbol OMIM ID
FAM161A 613596
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Retinitis Pigmentosa 28 AR 606068

Related Tests

Name
Autosomal Recessive Retinitis Pigmentosa via the FLVCR1 Gene
Hereditary Sensory and Autonomic Neuropathy Panel
Retinitis Pigmentosa Panel

Citations

  • Bandah-Rozenfeld et al. 2010 PubMed ID: 20705279
  • Booij et al. 2005. PubMed ID: 16272259
  • Human Gene Mutation Database (Bio-base).
  • Karlstetter et al. 2014. PubMed ID: 24833722
  • Langmann et al. 2010. PubMed ID: 20705278
  • RetNet
  • van Soest et al. 1999. PubMed ID: 10025514
  • Venturini et al. 2014. PubMed ID: 24651477

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

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.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

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View Ordering Instructions

1) Select Test Method (Platform)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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