DNA icon

Usher Syndrome Type 1, Deafness, Autosomal Dominant 11 (DFNA11) and Deafness, Autosomal Recessive 2 (DFNB2) via the MYO7A 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
MYO7A 81407 81407,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
3091MYO7A81407 81407,81479 $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. Usher syndrome type 1 (USH1 OMIM 276900) is the most common type. It is distinguished by congenital onset of hearing loss, RP in the first decade of life, and abnormal vestibular function (Cohen et al. Int J Audiol 46:82-93, 2007). 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). The vestibular abnormality results in development delay in sitting and walking.


Usher syndrome type 1 (USH1) is an autosomal recessive disease that is genetically heterogeneous. Variants in the five genes MYO7A, CDH23, PCDH15, USH1G, and USH1C account for ~ 75% of cases with detectable variants (Weil et al. Nature 374:60-61, 1995; Bork et al. Am J Hum Genet 68:26-37, 2001; Ahmed et al. Am J Hum Genet 69:25-34, 2001; Bitner-Glindzicz et al. Nat Genet 26:56-60, 2000; Keats and Lentz, 2010). Variants in the MYO7A gene account for up to 50% of cases. Over 200 MYO7A variants have been reported. The majority of variants are missense, although chain termination variants are also common. Large deletion/insertions or complex rearrangements are apparently rare. In addition to USH1, MYO7A variants have been reported in patients with autosomal recessive (DFNB2) or autosomal dominant (DFNA11) nonsyndromic hearing loss (Liu et al. Nat Genet 16:188-190, 1997; Luijendijk et al. Hum Genet 115:149-156, 2004). The MYO7A gene encodes myosin VIIa, a myosin motor protein.

Clinical Sensitivity - Sequencing with CNV PG-Select

This test allows the detection of variants in approximately 50% of patients with USH1 (Keats and Lentz, GeneReviews, 2010).

Testing Strategy

This test provides full coverage of all coding exons of the MYO7A 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 combined sensorineural hearing loss, RP, and vestibular areflexia are candidates for testing. The MYO7A gene is also a candidate for patients presenting with familial nonsyndromic hearing loss (DFNB2 and DFNA11). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MYO7A.


Official Gene Symbol OMIM ID
MYO7A 276903
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Usher Syndrome, Type 1 AR 276900


  • Ahmed, Z. M., et.al. (2001). "Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F." Am J Hum Genet 69(1): 25-34. PubMed ID: 11398101
  • Bitner-Glindzicz, M., et.al. (2000). "A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene." Nat Genet 26(1): 56-60. PubMed ID: 10973248
  • Bork, J. M., et.al. (2001). "Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23." Am J Hum Genet 68(1): 26-37. PubMed ID: 11090341
  • Cohen M. et al. 2007. International Journal of Audiology. 46: 82-93. PubMed ID: 17365059
  • Daiger et al. 2007. PubMed ID: 17296890
  • 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
  • Liu, X. Z., et.al. (1997). "Mutations in the myosin VIIA gene cause non-syndromic recessive deafness." Nat Genet 16(2): 188-90. PubMed ID: 9171832
  • Luijendijk, M. W., et.al. (2004). "Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)." Hum Genet 115(2): 149-56. PubMed ID: 15221449
  • Weil, D., et.al. (1995). "Defective myosin VIIA gene responsible for Usher syndrome type 1B." Nature 374(6517): 60-1. PubMed ID: 7870171


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

loading Loading... ×


An error has occurred while calculating the price. Please try again or contact us for assistance.

View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: loading
Patient Prompt Pay Price: loading
A patient prompt pay discount is available if payment is made by the patient and received prior to the time of reporting.
Show Patient Prompt Pay Price
Copy Text to Clipboard