ExomeNext

Message

This test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.
Ambry has created an ExomeNext Interactive Gene Coverage Tool, a search engine that provides the average coverage for individual genes found on ExomeNext tests. After the gene(s) in question are entered, the tool displays the coverage for each consensus coding sequences (CDS) covered by ExomeNext’s platform. This helps healthcare providers understand how well ExomeNext or ExomeNext-Rapid covers any genes of interest for their patient before they order the test.

Test Code

EXOMENEXT(O)

Preferred Specimen

3 whole blood lavender EDTA

Minimum Volume

6-10 mL

Transport Temperature

Room temperature

Methodology
Next Generation Sequencing (NGS)

Report Available

8-12 weeks

Reference Range

Provided with patient report in CPRS.

Clinical Significance

ExomeNext sequences the exome using next generation sequencing methods targeted to the nuclear and mitochondrial (mtDNA) genomes. This, coupled with powerful bioinformatics (filtering and verification), identifies a clinical answer efficiently and effectively – genetic changes in the exome are expected to cause about 85% of known diseases. Healthcare providers are more likely to get an informative, medically actionable answer with exome sequencing.

Performing Laboratory
Test performed at Ambry Genetics and transported via Quest.

Additional Information
Link to test information on Ambry Genetics website

Last Updated: October 29, 2015

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.