About This Test
Clinical exome sequencing is a genetic test that identifies disease causing DNA variants in the genome such as coding regions (exons) & splice junctions. It covers a limited number of genes. This test is useful for the genetic assessment of rare undiagnosed disorders and syndromes with overlapping phenotypes such as neurological disorders like ataxia, epilepsy, myopathy, movement disorders, intellectual disability etc. There maybe situations where one defective gene causes more than one phenotypic illness. This assay has helped patients to enrol in disease modifying treatments, reproductive counselling & family planning.
Test Parameters (1)
- NX GEN CLINICAL EXOME SEQUENCING, THERMOFISHER (N806)
Home Collection
✓ Available
Reports Available In
30 Days
Frequently Asked Questions
Outsourced test are being done from Dr. Lal Path Lab. Charges and reporting time is same as of Dr. Lal Path Labs.
No special preparation required
NX GEN Clinical Exome Sequencing (ThermoFisher) is important because it provides a comprehensive genetic analysis to identify disease-causing mutations, especially when routine tests do not give a clear diagnosis.
TAT Policy
The Turnaround Time (TAT) depends on the following factors:
- Registration date and time
- Type of scan or test
- Scan time or sample collection time
In uncommon circumstances, TAT may be delayed due to test complexity or reasons beyond our control. You will be informed of the estimated TAT at the time of registration.
