Whole exome and genome sequencing

There are a group of patients that clinicians from a variety of specialties believe may have an undiagnosed genetic disorder.  These patients may or may not have had genetic testing to identify the cause of their disease.  Routine genetic testing usually includes chromosome analysis, DNA microarray for duplications and deletions and sequencing of specific genes that the attending physician and other specialist believe may cause the patient’s disorder.

When a specialist believes that the routine genetic testing noted above did not or will not identify the cause of a patient’s disorder, then whole exome sequencing or whole genome sequencing (together referred to as genomic sequencing) may be appropriate.

Whole exome sequencing and whole genome sequencing are clinical tests taken by a blood sample that can be used to help with diagnosis, treatment and prognosis just like any other diagnostic test.  It is not a research test.