SCA-14 (SPINOCEREBELLAR ATAXIA), PRKCG GENE MUTATION
SCA14 is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) . SCA14 is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. This test detects mutations in exon 4 which is a mutation hotspot in SCA14.
Parameter(s) covered : 2
Report Frequency: Sample Tue by 11 am; Report Sat
Special Instruction: Physician prescription is mandatory.
Price : ₹ 6000.00
Parameters
- SCA-14 (PRKCG Gene Mutation) c.367G>A
- SCA-14 (PRKCG Gene Mutation) c.380A>G