| EX1604 Nx GEN SEQUENCING: AICARDI-GOUTIERES SYNDROME |
| Specimen: |
Submit 10 mL (5 mL min.) of whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. |
| Stability: |
| Room |
Refrigerated |
Frozen |
| 6 hrs |
72 hrs |
NA |
|
| Method: |
NGS, Sanger sequencing |
| Comment: |
|
| Report: |
Contact us to know the TAT. |
| Usage: |
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. |
| Doctor Specialty: |
Neurologist, Pediatrician |
| Disease: |
Genetic Disorders-Encephalopathy |
| Components: |
ADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, TREX1 |
| Courier Charges: |
|
| Home Collection: |
Available (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Whole Exome Sequencing Consent Form is mandatory. |
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