Usher Syndrome Type 1 via the USH1G Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 8933 | USH1G | 81404 | 81404,81479 | $990 | 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 platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
The Sanger Sequencing method for this test is NY State approved.
For Sanger Sequencing click here.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.
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) 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 eventually 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.
Genetics
Usher syndrome type 1 (USH1) is an autosomal recessive disease that is genetically heterogeneous. To date, variants in five genes (MYO7A, CDH23, PCDH15, USH1C, and USH1G) have been documented to cause USH1. variants in the USH1G gene appear to be a rare cause of USH1 (Weil et al. Hum Mol Genet 12:463-471, 2003; Bonnet et al. Orphanet J Rare Dis 6:21, 2011). Eight variants have been reported to date. These include missense, nonsense, and small insertions or deletions. The USH1G gene encodes SANS, a scaffold protein that is expressed specifically within the neurosensory epithelium (Kikkawa et al. Hum Mol Genet 12:453-461, 2003).
Clinical Sensitivity - Sequencing with CNV PGxome
This test allows the detection of variants in up to 7% of patients with USH1 (Keats and Lentz, GeneReviews, 2011; Bonnet Orphanet J Rare Dis 6:21, 2011).
Testing Strategy
This test provides full coverage of all coding exons of the USH1G 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
All patients with symptoms suggestive of combined sensorineural hearing loss, RP, and vestibular areflexia, who do not have variants in the genes that are more frequently mutated in USH1 patients. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in USH1G.
All patients with symptoms suggestive of combined sensorineural hearing loss, RP, and vestibular areflexia, who do not have variants in the genes that are more frequently mutated in USH1 patients. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in USH1G.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| USH1G | 607696 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Usher Syndrome, Type Ig | AR | 606943 |
Related Test
| Name |
|---|
| Usher Syndrome Type 1 and Deafness, Autosomal Recessive 12 (DFNB12) via the CDH23 Gene |
Citations
- Bonnet, C., et.al. (2011). "Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis." Orphanet J Rare Dis 6: 21. PubMed ID: 21569298
- 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. 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
- Kikkawa, Y., et.al. (2003). "Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice." Hum Mol Genet 12(5): 453-61. PubMed ID: 12588793
- Weil, D., et.al. (2003). "Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin." Hum Mol Genet 12(5): 463-71. PubMed ID: 12588794
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
PGxome (Exome) Sequencing Panel
PGnome (Genome) Sequencing Panel
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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.