Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies

Casandra

Casandra Test Code MC27779Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID DRPLCPT Code 81177

Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies

Clinical Use

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

Patients who have received a bone marrow transplant from an allogenic donor may have interference in testing. It is essential to contact the lab if testing is required for such individuals. Genetic counseling is strongly recommended both before and after the testing, especially for predictive testing. Informed consent is required for New York clients.

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.

Test Details

New York Approved