Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants

2013750
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Additional Technical Information
Ordering Recommendation

Carrier screening or diagnostic testing for Usher syndrome types 1F and 3 for individuals of Ashkenazi Jewish descent.

Mnemonic
USHER
Methodology

Polymerase Chain Reaction/Fluorescence Monitoring

Performed

Tue, Fri

Reported

5-10 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month

Reference Interval

By report

Interpretive Data

Background Information for Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants:
Characteristics: Usher syndrome type 1F is characterized by congenital, bilateral, profound sensorineural hearing loss, adolescent-onset retinitis pigmentosa and loss of vestibular function. Usher syndrome type 3 is characterized by post-lingual, progressive hearing loss, late-onset progressive vision loss due to retinitis pigmentosa and variable loss of vestibular function.
Incidence: In Ashkenazi Jewish individuals - 1 in 20,500 for Usher syndrome type 1F; 1 in 82,000 for Usher syndrome type 3.
Inheritance: Autosomal recessive.
Cause: PCDH15 and CLRN1 pathogenic variants.
Variants Tested: PCDH15 p.R245X (c.733C>T), CLRN1 p.N48K (c.144T>G).
Clinical Sensitivity: In Ashkenazi Jewish individuals - 62 percent for Usher syndrome, type 1F; 98 percent for Usher syndrome, type 3. Sensitivities unknown in other ethnicities.
Methodology: Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Variants other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81400

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Components
Component Test Code* Component Chart Name LOINC
2013751 Usher Syndrome Types 1F and 3, Specimen
2013752 Usher Syndrome Types 1F and 3, Allele 1
2013753 Usher Syndrome Types 1F and 3, Allele 2
2013754 Usher Syndrome Types 1F and 3, Interp
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Aliases
Usher Syndrome, Types 1F and 3 (PCDH15 and CLRN1), 2 Variants