Description
| Specimen: | Submit 10 mL (5 mL min.) Whole blood from 2 Lavender Top (EDTA) tubes. . | ||||||
| Stability: |
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| Method: | NGS, Sanger sequencing | ||||||
| Comment: | Samples received on holidays will be reported in next schedule / next working day. | ||||||
| Price: | 32400.00 | ||||||
| Report: | Sample Daily by 9 am; Report 30 Working days | ||||||
| Usage: | Whole exome sequencing (WES) is a genetic test to identify heritable cause of a disorder. WES searches through all the coding regions of the gene (exome) to identify variants. Human exome represents less than 2% of the genome but contains 85% of known disease related variants. This test is useful for the genetic analysis when patient presents with mutations in several genes which may have similar clinical presentation eg. neuropathies, ataxia, muscular disorders, skin disorders & thrombocytopenia. It is also useful when phenotype is atypical or combination of symptoms does not provide a definite diagnosis. | ||||||
| Doctor Specialty: | Pediatrician | ||||||
| Disease: | Genetic Disorders | ||||||
| Components: | |||||||
| Courier Charges: | |||||||
| Home Collection: | Available | ||||||
| Department: | MOLECULAR DIAGNOSTICS | ||||||
| Pre Test Information: | Duly filled Nx Gen Sequencing (NGS) |
