Spinocerebellar ataxia (Ataxia in Greek means disorder) is a rare genetic neurological disease that are characterized by degenerative changes in the part of brain which results in worsening of movement and coordination. Spinocerebellar ataxia (SCA) usually begins at the age of 18 years.
Most common subtypes of spinocerebellar ataxia:
Frequency of occurrence: 2:100000
Heredity: autosomal dominant
Spinocerebellar ataxia DNA test tests for changes in the number of trinucleotide CAG repeats in genes:
Interpretation of CAG trinucleotide repeats of ATXN1, ATXN2, ATXN3 and CACNA1A genes:
In cases when a tested gene mutation is detected in a patient, we recommend to consult a neurologist. The family would also be advised to consult a geneticist to determine the risk of the disease and the status of the mutation carrier, especially for close family members.
With a doctor’s referral (for a complete list, see the “Prices”) section) medical DNA tests are paid for by the NHS. Important! The NHS only pays for the test if the referral is issued as part of an NHS-paid visit, and the doctor has a contract with the NHS. Referrals issued during a paid visit will not be valid. Quotas are available.
You can also order all offered DNA tests at full price. Remote contactless testing is available for both paid and NHS-referred tests. All medical DNA tests can be performed remotely, except for tests on pregnant women and those where a blood sample must be collected.