Friedreich Ataxia Genetic Testing (Trinucleotide Repeat Expansion)

TEST: 620077
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CPT: 81284
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Special Instructions

This assay is not currently available in New York state.

Expected Turnaround Time

14 - 28 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Specimen Requirements

Specimen

Whole blood

Volume

4 mL

Container

Lavender-top (EDTA) tube

Storage Instructions

Ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze.

Causes for Rejection

Frozen blood EDTA tube

Test Details

Use

Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems.

Limitations

Maximum reportable sizing: 1300 repeats.

This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

Methodology

Repeat-Primed PCR (QP-PCR)

For Providers

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CPT Statement/Profile Statement

The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf