Single Gene Tests

Our test menu includes more than 3,900 single genes representing our 14 categories. All genes are clinically highly relevant and selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer single gene testing always as Plus analysis (a combination of Sequencing & Del/Dup). All genes that are provided as single gene tests had at least 99.5% of the target region covered with 20x depth in the initial validation.

The great majority of tests are completed within 28 days.

The genes have been selected based on:

• Addition of well-known disease genes utilizing both curated gene reviews and variant databases

•Identification of new disease-causing genes from most recent literature and databases

•Customer requests

•Balance of clinical utility in including the most relevant genes, while excluding all preliminary genes

Single gene tests