Whole Exome Sequencing | NGS

Test DetailsWhole exome sequencing and analysis for the detection of genetic variation underlying suspected monogenic disease. Trio sequencing (patient and comparator parents) is recommended but singleton and other family structures also available. Minimum mean depth of coverage across the target region of 130x achieves sensitive detection of small variation (SNVs and indels) across the coding regions of the genome.

ACMG SF 3.3 secondary findings available for sequenced individuals (proband as well as comparators).
MethodologyNext-generation sequencing
PerformedMonday – Friday
Turnaround8 weeks
Specimen RequirementsPreferred specimen is 2-5 mL of peripheral blood in a lavender-top EDTA tube. Alternative specimen: 2 buccal swabs (please contact laboratory prior to sending buccal swabs).

DNA extracted in a CLIA-certified laboratory (or equivalent) is accepted only with laboratory approval.
Sample CollectionSpecimen collection kits are available upon request.
Minimum Sample Volume1 ml; 2 swabs
Storage/Transport ConditionsAmbient / room temperature unless delivery will exceed four hours, then refrigerated temperature is preferred.
Unacceptable ConditionsFrozen specimens, clotted or hemolyzed specimens, inappropriate tube type.
CPT Code(s)81415 (proband), 81416 (comparator)