Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies
Use
Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder characterized by symptoms such as ataxia, choreoathetosis, dementia, and psychiatric disturbance in adults, and symptoms like ataxia, myoclonus, seizures, and progressive intellectual deterioration in children. DRPLA is caused by an expansion of a CAG trinucleotide repeat in the ATN1 gene. This test is useful for confirming the diagnosis of DRPLA in symptomatic patients and for predictive testing in individuals with a family history of the condition and a documented expansion of the ATN1 gene in an affected family member.
Special Instructions
Not provided.
Limitations
Errors in test interpretation may occur if incomplete or inaccurate family history information is provided. The absence of an expansion in the ATN1 gene does not rule out other neurodegenerative disorders with overlapping symptoms, such as Huntington disease or spinocerebellar ataxias.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
ATN1
Gene
LOINC Codes
- 49631-5 - ATN1 allele 1 CAG Rpt EntNum Bld/T
- 50397-9 - Mol dx interp Bld/T Ql
- 49631-5 - ATN1 allele 1 CAG Rpt EntNum Bld/T
- 69047-9 - Geneticist review
- 31208-2 - Specimen source
- 18771-6 - Provider signing name
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.