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. Frozen specimens in glass collection tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; 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

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
05/17/2021
X
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