| EX1610 Nx GEN SEQUENCING: ATAXIA-TELANGIECTASIA |
| 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: |
Ataxia-telangiectasia (AT) is an autosomal recessive disorder presenting in the first decade of life with progressive telangiectatic lesions associated with a deficit in cerebellar function & nystagmus. There is a high incidence of pulmonary infections and neoplasms of lymphatic & reticuloendothelial systems. Associated tumors usually seen are Lymphomas, Hodgkin’s disease, Acute T cell leukemia & Breast cancer. Mutations in the ATM gene reduce or eliminate the function of the ATM protein which causes AT. |
| Doctor Specialty: |
Neurologist |
| Disease: |
Genetic Disorders-Ataxia |
| Components: |
*ATM |
| Courier Charges: |
|
| Home Collection: |
Available (*T&C Apply) |
| Department: |
MOLECULAR DIAGNOSTICS |
| Pre Test Information: |
A duly filled Whole Exome Sequencing Consent Form is mandatory. |
Reviews
There are no reviews yet.