SCA (SPINOCEREBELLAR ATAXIA: EXTENDED PROFILE
Spinocerebellar ataxia (SCA) are autosomal dominant cerebellar ataxias of various types ranging from 1 to 40. SCA1, 2, 3, 6, 7 & 17 are caused by CAG triplet repeat expansions in different genes. SCA8 is due to an untranslated CTG repeat expansion; SCA12 is linked to an untranslated CAG repeat; SCA10 is caused by an untranslated pentanucleotide repeat. The clinical phenotypes of SCAs overlap, hence genotype has become the gold standard for diagnosis and classification.
Parameter(s) covered : 33
Report Frequency: Sample Tue by 11 am; Report Sat
Special Instruction: Physician prescription is mandatory.
Price : ₹ 27000.00
Parameters
- ATN1 Gene CAG Repeats Allele 1
- ATN1 Gene CAG Repeats Allele 2
- ATXN2 Gene CAG Repeats Allele 1
- ATXN2 Gene CAG Repeats Allele 2
- ATXN3 gene CAG Repeats Allele 1
- ATXN3 gene CAG Repeats Allele 2
- ATXN7 Gene CAG Repeats Allele 1
- ATXN7 Gene CAG Repeats Allele 2
- ATXN8OS/ATXN8 Gene Repeats Allele 1
- ATXN8OS/ATXN8 Gene Repeats Allele 2
- CACNA1A Gene CAG repeats Allele 1
- CACNA1A Gene CAG repeats Allele 2
- DRPLA
- FMR1 Gene CGG Repeats Allele 1
- FMR1 Gene CGG Repeats Allele 2
- FXTAS
- PDYN Gene Mutation
- PP2R2B gene CAG Repeats Allele 1
- PP2R2B gene CAG Repeats Allele 2
- SCA-1
- SCA-14 (PRKCG Gene Mutation) c.367G>A
- SCA-14 (PRKCG Gene Mutation) c.380A>G
- SCA-17
- SCA-2
- SCA-3
- SCA-5 SPINOCEREBELLAR ATAXIA SPTBN2 GENE MUTATIO
- SCA-6
- SCA7
- SCA-8
- SPINOCEREBELLAR ATAXIA TYPE 12
- TBP Gene CAG or CAA Repeats Allele1
- TBP Gene CAG or CAA Repeats Allele2
- TTBK2 Gene Mutation