Whole Genome Sequencing

Also known as: WGS NGS

Clinical Use

Use

Variants that are causative or suspected to be causative for the patient’s phenotype are reported.Candidate variants that are not known to be causative for the patient’s phenotype may be reported (eg, de novo variants in a GUS, transheterozygous variants of uncertain significance (VUS) in an autosomal recessive gene, heterozygous variants in an autosomal recessive gene which has clinical overlap with the patient’s phenotype).

Special Instructions

Parental samples:Rapid whole genome sequencing is not intended for a proband without parentalsamples. Parental specimens (familial controls) are necessary to identify de novovariants and the chromosomal phase of variants, and aid in the optimalinterpretation of the patient’s results.Whole genome sequencing can be performed without parental samples, butparental specimens are recommended.Submit parental samples within 7 days of the proband's sample.Medical records: Medical records detailing the patient’s clinical findings, relevantprevious testing/imaging results, and family history are required for optimalinterpretation of the patient’s results. The ability to identify causative variant(s) for thepatient’s presentation is influenced by the quality of the clinical information provided.Informed consent: Healthcare provider attestation of informed consent is required.Reporting of secondary findings is available for the proband and each parent ifdesired.

Limitations

Identification of causative variants strongly depends on the quality of clinical information supplied. The test is an LDT (Laboratory Developed Test), and New York State clients cannot be serviced due to lack of state approval.

Test Details