SCA-5 (SPINOCEREBELLAR ATAXIA) SPTBN2 GENE MUTATION

Cerebellar ataxia have variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord. Spinocerebellar ataxia-5 (SCA5) is caused by heterozygous mutation in the SPTBN2 gene on chromosome 11q13. This test is specific for SPTBN2 gene hotspot (exon 12) locus.

  • Test Type:
  • Pre-test Information:
    Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
  • Report Delivery:
    Sample by Tue 11 AM; report Sat
  • Components:
    0
  • Clinical Form:

Sample Report