NX GEN SEQ, AICARDI-GOUTIERES SYNDROMEÂ
Aicardi-Goutières syndrome (AGS) is an inherited encephalopathy that affects newborns resulting in severe intellectual and physical disability. It has an early onset form that is severe and a late onset form that has less impact on neurological function. Diagnosis of AGS is established in a proband with typical clinical findings and characteristic abnormalities on cranial CT (calcification of the basal ganglia and white matter) and MRI (leukodystrophic changes) and/or by the identification of one of the following: Biallelic pathogenic variants in ADAR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, or TREX1 genes or specific heterozygous autosomal dominant pathogenic variants in TREX1 and ADAR genes.
Parameter(s) covered : 1
Report Frequency: Sample Daily by 9 am; Report 40 Working days
Special Instruction: Duly filled Nx Gen Sequencing (NGS) Test Requisition Form (Form 40) is mandatory.
Price : ₹ 20000.00
Parameters
- Nx Gen Seq AicardiGoutieres syndrome