Usher Syndrome Type III

CPT: 81400
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Test Details

Use

Detect Usher syndrome type III

Methodology

DNA analysis

Additional Information

Usher syndrome type III occurs at increased frequency in individuals of Ashkenazi Jewish descent, with a carrier frequency of 1 in 107. This type of Usher syndrome causes hearing problems that progressively worsen, although the rate of detection varies. Individuals are usually completely blind by adulthood, and hearing loss is moderate to severe. Balance is not usually affected. Currently, there is no treatment. Couples who are planning a pregnancy or who are already pregnant may decide to have testing to find out whether they are carriers and at risk of having a baby with Usher syndrome type III. Usher syndrome type III mutation analysis tests for one mutation for a 98% carrier detection rate in the Ashkenazi Jewish population.

Specimen Requirements

Specimen

Whole blood, amniotic fluid, chorionic villus sample (CVS) (Submission of maternal blood is required for fetal testing.), or LabCorp buccal swab kit (Buccal swab collection kit contains instructions for use of a buccal swab.)

Volume

7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit

Minimum Volume

3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs

Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube or two confluent T-25 flasks for fetal testing, or LabCorp buccal swab kit

Storage Instructions

Maintain specimen at room temperature.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
450050 Usher Syndrome Type III 451379 Usher Syndrome Type III 51969-4
450050 Usher Syndrome Type III 511963 PDF Pending
450050 Usher Syndrome Type III 511005 Jewish Heritage Putaway N/A

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