DRPLA (ATN1) Genetic Testing (Repeat Expansion)

CPT: 81177

Expected Turnaround Time

14 - 28 days


Specimen Requirements


Specimen

Whole blood


Volume

4 mL


Minimum Volume

1 mL


Container

Lavender-top (EDTA) tube


Collection

Draw blood into EDTA tube.


Storage Instructions

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


Stability Requirements

Temperature

Period

Room temperature

5 days

Refrigerated

5 days

Frozen

Do not freeze


Causes for Rejection

Frozen blood EDTA tube


Test Details


Use

Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive disorder of ataxia, myoclonus, epilepsy and progressive intellectual deterioration in children and ataxia, choreoathetosis, and dementia or character changes in adults. The diagnosis of DRPLA is established in a proband with suggestive clinical findings and a family history of DRPLA or by the indentification of a heterozygous pathogenic CAG trinucleotide expansion in ATN1.


Limitations

Maximum reportable sizing: 110 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)


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