Usher Syndrome Type 2 via the ADGRV1 (GPR98) Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
11075 ADGRV1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11075ADGRV181479 81479(x2) $890 Order Options and Pricing

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. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

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

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 13 days 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

  • Ben Dorshorst, PhD

Clinical Features and Genetics

Clinical Features

Usher syndrome is a clinically heterogeneous disorder characterized by progressive retinitis pigmentosa (RP) and sensorineural hearing impairment, with or without vestibular abnormalities. Three types are recognized based on the age of onset, severity of symptoms, and the vestibular involvement (Smith et al. 1994). Usher syndrome type 2 (USH2) is characterized by mild to severe congenital hearing loss, RP with onset in the teens, and normal vestibular function. Features of RP include night blindness progressing to constriction of the peripheral visual field with eventually loss of central vision, abnormal fundus with bone-spicule deposits/attenuated retinal vessels, and abnormal electroretinographic (ERG) findings (Daiger et al. 2007).

Genetics

Usher syndrome type 2 (USH2) is a genetically heterogeneous autosomal recessive disease. Variants in three genes: USH2A, GPR98 (ADGRV1), and DFNB31 account for nearly all cases with detectable variants (Eudy et al. 1998; Weston et al. 2004; Mburu et al. 2003; Keats and Lentz 2010). To date, about 25 causative ADGRV1 variants have been reported, which include missense, nonsense, small deletions/insertions, and one large genomic deletion. Because the initial ADGRV1 variants were all identified in female patients, it was postulated that such variants are lethal in males. However, ADGRV1 variants were recently reported in both female and male patients with typical USH2 (Hilgert et al. 2009; Ebermann et al. 2009). The ADGRV1 gene encodes a G-protein-coupled receptor, which is expressed in the central nervous system.

Clinical Sensitivity - Sequencing with CNV PGxome

This test allows the detection of variants in ~15% of patients with USH2 (Keats and Lentz 2011).

Testing Strategy

This test provides full coverage of all coding exons of the ADGRV1 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. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Patients with combined congenital sensorineural hearing loss and RP with normal vestibular function. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in ADGRV1.

Gene

Official Gene Symbol OMIM ID
ADGRV1 602851
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Usher Syndrome, Type 2C AR 605472

Citations

  • Daiger et al. 2007. PubMed ID: 17296890
  • Ebermann I. et al. 2009. Journal of Medical Genetics. 46: 277-80. PubMed ID: 19357117
  • Eudy J.D. et al. 1998. Science (new York, N.y.). 280: 1753-7. PubMed ID: 9624053
  • Hilgert N. et al. 2009. Journal of Medical Genetics. 46: 272-6. PubMed ID: 19357116 PubMed ID: 19357116
  • Keats BJ, Lentz J. 2010. Usher Syndrome Type I. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301442
  • Keats BJ, Lentz J. 2011. Usher Syndrome Type II. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJ, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301515
  • Mburu P. et al. 2003. Nature Genetics. 34: 421-8. PubMed ID: 12833159
  • Smith R.J.H. et al. 1994. American Journal of Medical Genetics. 50: 32-8. PubMed ID: 8160750
  • Weston M.D. et al. 2004. American Journal of Human Genetics. 74: 357-66. PubMed ID: 14740321

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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


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.
Total Price: $
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