Spinal Cerebral Ataxia Type - 2

What is Spinal Cerebral Ataxia Type 1 (SCA2) test?

The Spinocerebellar Ataxia Type 2 (SCA2), EDTA Blood test is a genetic test performed on a blood sample collected in an EDTA tube. It detects mutations in the ATXN2 gene that cause Spinocerebellar Ataxia Type 2, a hereditary neurodegenerative disorder characterized by progressive problems with coordination, balance, and movement. A targeted genetic test that amplifies and sizes the CAG repeat in ATXN2 using PCR with fluorescent fragment analysis and/or triplet repeat–primed PCR; large expansions may be estimated rather than precisely counted.

Why consider Spinal Cerebral Ataxia Type 1 (SCA2) test?

• To confirm a diagnosis of Spinocerebellar Ataxia Type 2 in individuals showing symptoms such as gait disturbances, impaired coordination, and speech difficulties.
• To differentiate SCA2 from other types of ataxias and neurological disorders.
• To assist with genetic counseling, family planning, and prognosis.
• To guide early diagnosis and management of symptoms.

Who should get tested for Spinal Cerebral Ataxia Type 1 (SCA2) test?

• Individuals exhibiting symptoms of progressive ataxia and a family history of SCA2 or other hereditary ataxias.
• Patients with unexplained neurological symptoms suggestive of spinocerebellar ataxia.
• Healthcare providers may recommend this test for patients suspected of having hereditary ataxia.

More Information about Spinal Cerebral Ataxia Type 1 (SCA2) test

OTHER NAMES: SCA2 genetic test, Spinocerebellar ataxia type 2 mutation analysis, Hereditary ataxia genetic testing

Spinocerebellar Ataxia Type 2 (SCA2) is a rare, inherited neurodegenerative disorder that causes progressive loss of coordination and balance due to degeneration of the cerebellum and other parts of the nervous system. It’s one of the many types of spinocerebellar ataxias caused by mutations in the ATXN2 gene. SCA2 is caused by an abnormal expansion of CAG repeats in the ATXN2 gene. Diagnosis is confirmed by genetic testing identifying mutations in the ATXN2 gene. Genetic counseling is recommended for affected individuals and their families.