NX GEN TUBEROUS SCLEROSIS COMPLEX
Tuberous sclerosis complex (TSC) involves abnormalities of the Skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); Brain (subependymal nodules, cortical dysplasias & subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); Kidney (angiomyolipomas, cysts, renal cell carcinomas); Heart (rhabdomyomas, arrhythmias); Lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). The diagnosis of TSC is established in a proband with Identification of a heterozygous pathogenic variant in the genes TSC1 or TSC2 by molecular genetic testing.
Parameter(s) covered : 1
Report Frequency: Sample Daily by 9 am; Report 30 Working days
Special Instruction: Duly filled Nx Gen Sequencing (NGS) Test Requisition Form (Form 40) is mandatory.
Price : ₹ 25400.00
Parameters
- NX GEN TUBEROUS SCLEROSIS COMPLEX