Clinical exome - 26MB (80-100x) With UTSH

Clinical Exome

It is DNA test that screens the root of a DNA disorder which exhibits different diseases or a single genetic disorder. Molecular Diagnosis of DNA disorders

Purpose

To diagnose genetic disorder and identifies genetic mutation in a large number of DNA. Most feasible molecular diagnostic test in rare genetic disorders

Benefits

• Scopes better understanding of disease
• Predicts historical details of the disease

Results

Results are variant specific.

Variant-wise report

• Pathogenic - likely to cause
• VUS (Variant of uncertain significance) - Cause relativity with variant unknown
• No variant found - absence of disease
• Additional findings - analysis beyond the scope of the test

When

As advised by the Doctor

How

Performed under the guidance of Clinical geneticists

Who

Individuals having condition of Hereditary diseases . Those whose disease cause is not determined by performing known tests Suspects of rare disease

Before Screening Prep

No mandate guideline stipulated

As per Doctors advise