NX GEN SEQ, ATAXIA-TELANGIECTASIA
Ataxia-telangiectasia (AT) is an autosomal recessive disorder presenting in the first decade of life with progressive telangiectatic lesions associated with deficit in cerebellar function & nystagmus.There is a high incidence of pulmonary infections and neoplasms of lymphatic & reticuloendothelial system. Associated tumors usually seen are Lymphomas, Hodgkin disease, Acute T cell leukemia & Breast cancer. Mutations in ATM gene reduce or eliminate the function of the ATM protein which causes AT.
Parameter(s) covered : 1
Report Frequency: Sample Daily by 9 am; Report 40 Working days
Special Instruction: Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.
Price : ₹ 21600.00
Parameters
- Nx GEN SEQ ATAXIA-TELANGIECTASIA