DRPLA (ATN1) Genetic Testing (Repeat Expansion)

CPT: 81177
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Special Instructions

This assay is not currently available in New York state.


Expected Turnaround Time

2 - 4 weeks



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

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)


LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
620158 DRPLA Repeat Expansion 21756-2 230163 Specimen Status N/A
620158 DRPLA Repeat Expansion 21756-2 620159 DRPLA Result 21756-2
620158 DRPLA Repeat Expansion 21756-2 620160 DRPLA Interpretation N/A
620158 DRPLA Repeat Expansion 21756-2 620162 DRPLA Footnotes N/A

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