Massively parallel sequencing technology that offers ultra-high throughput, scalability, and speed.
Mutation analysis by MLPA/TP-PCR is a method that employs a pool of custom-designed probes to specific genomic regions of interest.
Sanger sequencing is a robust testing strategy to determine whether a point mutation or small deletion/duplication is present.
Prenatal diagnosis is a method of testing the unborn baby for severe genetic diseases.
Sample requirements: 2-3 ml EDTA blood samples or DNA or tissue of proband and parents, affected and unaffected siblings (as necessary). Turnaround time begins on the date of receipt of payment or samples, whichever is later. For patient information sheets, consent forms, test request forms, and information for clinicians Use the following Link: www.sumagenomics.in/forms