SPINAL CEREBRAL ATAXIA TYPE - 1, EDTA BLOOD

What is Spinal Cerebral Ataxia Type 1 (SCA1) test?

The Spinal Cerebral Ataxia Type 1 (SCA1), EDTA Blood test is a genetic test performed on a blood sample collected in an EDTA tube. It detects mutations in the ATXN1 gene that cause Spinocerebellar Ataxia Type 1, a hereditary neurodegenerative disorder characterized by progressive problems with coordination, balance, and movement. A targeted genetic test that amplifies and sizes the CAG repeat region in ATXN1 using PCR with fluorescent fragment analysis; some labs also assess CAT interruptions within the repeat, which affect pathogenicity thresholds.

Why consider Spinal Cerebral Ataxia Type 1 (SCA1) test?

• To confirm a diagnosis of Spinocerebellar Ataxia Type 1 in individuals showing symptoms like ataxia, speech difficulties, and muscle stiffness.
• To differentiate SCA1 from other types of ataxias and neurological disorders.
• To provide information for genetic counseling, family planning, and prognosis.
• To assist in early diagnosis and help guide symptom management and supportive care.

Who should get tested for Spinal Cerebral Ataxia Type 1 (SCA1) test?

• Individuals presenting with symptoms of progressive ataxia, impaired coordination, or family history of SCA1.
• People 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 (SCA1) test

OTHER NAMES: SCA1 genetic test, Spinocerebellar ataxia type 1 mutation analysis, Hereditary ataxia genetic testing

Spinocerebellar Ataxia Type 1 (SCA1) is a rare, inherited neurodegenerative disorder that affects coordination, balance, and muscle control. It is one of several types of spinocerebellar ataxias caused by mutations in the ATXN1 gene. SCA1 is caused by a mutation involving an abnormal expansion of CAG repeats in the ATXN1 gene. It is inherited in an autosomal dominant pattern, meaning a mutation in just one copy of the gene can cause the disorder. Diagnosis is confirmed through genetic testing detecting ATXN1 gene mutations. Genetic counselling is recommended for affected families.