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Usher Syndrome Type 2 via the USH2A 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
USH2A 81408 81408,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3059USH2A81408 81408,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

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

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

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.


Genetic Counselors


  • 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. Am J Med Genet 50:32-38, 1994). Usher syndrome type 2 (USH2 OMIM 276901) 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 eventual loss of central vision, abnormal fundus with bone-spicule deposits/attenuated retinal vessels, and abnormal electroretinographic (ERG) findings (Daiger et al. Arch Ophthalmol 125:151-158, 2007).


Usher syndrome type 2 (USH2) is a genetically heterogeneous autosomal recessive disease. Variants in three genes: USH2A, GPR98, and DFNB31 account for nearly all cases with detectable variants (Eudy et al. Science 280:1753-1757, 1998; Weston et al. Am J Hum Genet 74:357-366; Mburu et al. Nat Genet 34:421-428, 2003; Keats and Lentz, GeneReviews, 2009). Over 120 USH2A causative variants have been reported to date. The majority of variants are missense. Other variants include nonsense, splicing, and small insertions or deletions. Although most USH2A variants are private, a single nucleotide deletion (c.2299delG) predicted to result in a frameshift with premature termination codon, has been identified in several populations (Dreyer et al. Am J Hum Genet 69: 228–234, 2001). In addition to USH2, USH2A variants have been reported in patients with nonsyndromic autosomal recessive RP (AR-RP OMIM 608400) (Rivolta et al. Am J Hum Genet 66:1975-1978, 2000). The USH2A gene encodes usherin, which is involved in the development of the inner ear and eye.

Clinical Sensitivity - Sequencing with CNV PG-Select

This test allows the detection of variants in ~ 80% of patients with USH2 (Keats and Lentz, GeneReviews, 2009).

Testing Strategy

This test provides full coverage of all coding exons of the USH2A gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

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 USH2A.


Official Gene Symbol OMIM ID
USH2A 608400
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Usher Syndrome, Type IIa AR 276901

Related Tests

Retinitis Pigmentosa Panel
Usher Syndrome Type 1 and Deafness, Autosomal Recessive 12 (DFNB12) via the CDH23 Gene
Usher Syndrome Type 1 via the USH1G Gene
Usher Syndrome Type IJ and Deafness, Autosomal Recessive 48 (DFNB48) via the CIB2 Gene


  • Daiger et al. 2007. PubMed ID: 17296890
  • Dreyer, B., et.al. (2001). "A common ancestral origin of the frequent and widespread 2299delG USH2A mutation." Am J Hum Genet 69(1): 228-34. PubMed ID: 11402400
  • Eudy J.D. et al. 1998. Science (new York, N.y.). 280: 1753-7. PubMed ID: 9624053
  • 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
  • Rivolta, C., et.al. (2000). "Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss." Am J Hum Genet 66(6): 1975-8. PubMed ID: 10775529
  • 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 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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View Ordering Instructions

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2) Select Additional Test Options

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