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SCA-2 (SPINOCEREBELLAR ATAXIA), ATXN2 GENE MUTATION

SCA2 is an autosomal dominant ataxia which is mainly seen in patients from India & Cuba. It is a unique form of cerebellar degenerative disease which can arise in a wide age range of 2 to 65 years. The symptoms are similar to SCA1 but in addition , the patient also has optic disc pallor, retinal degeneration & Parkinsonian rigidity. In SCA 2 there is a CAG trinucleotide repeat in chromosome 12q which results in abnormal Ataxin-2 protein production.

Parameter(s) covered : 3
Report Frequency: Sample Tue by 11 am; Report Sat
Special Instruction: Physician prescription is mandatory.

Price : ₹ 2700.00

Parameters

  1. ATXN2 Gene CAG Repeats Allele 1
  2. ATXN2 Gene CAG Repeats Allele 2
  3. SCA-2