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DRPLA (ATN1) Genetic Testing (Repeat Expansion)
This assay is not currently available in New York state.
Expected Turnaround Time
2 - 4 weeks
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.
Lavender-top (EDTA) tube
Draw blood into EDTA tube.
Ship ASAP, but stable up to 5 days post-collection at room temperature. Do not freeze.
Do not freeze
Causes for Rejection
Frozen blood EDTA tube
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.
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.
Repeat-Primed PCR (QP-PCR)
|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|