Whole Genome Sequencing (WGS) is a comprehensive test that covers up to 98% of the whole human genome.
Advancements in next-generation sequencing technology are poised to revolutionize diagnostic testing by the introduction of Whole Genome Sequencing (WGS). Your patient and family may have spent years undergoing multiple genetic testing without avail, which is why WGS may be the perfect test to potentially end their diagnostic odyssey. Alternatively, you may be managing a new patient or newborn with complex medical issues for whom a comprehensive approach would be the appropriate first-line test.
WGS is a powerful tool for detecting known and potential disease-causing variations. While other traditional genetic
tests, such as whole exome sequencing and chromosomal microarray analysis, impart only particular changes in a patient’s DNA, WGS is advantageous as a single test to detect variants that may not be amenable to current genetic testing.
WGS can capture virtually all disease-causing genetic variations including single-nucleotide variants, small insertion/deletions, and copy number variants. WGS has multiple applications ranging from being an effective diagnostic strategy for the clinical diagnosis of genetic and inherited disorders to treatment planning and pharmacogenomic uses.
The exome accounts for only 1 – 2% of the whole genome making WGS the most comprehensive test for your patient.
Take the first step with WGS
|SAMPLE TYPE||REQUIREMENTS||SHIPPING CONDITIONS|
3-5 cc (2 yrs-adult), 2-3 cc (newborn-2 yrs) in EDTA(purple-top) tube (molecular testing).
Attach clinical notes and concurrent laboratory reports.
Ship at room or refrigerated temperature in an insulated container by overnight courier. Do not heat or freeze. Specimen should arrive in the laboratory within 24-48
Send two T25 flasks at 80-100% confluence.
Ship at ambient temperature (18-25°C/64-77°F) in an insulated container by overnight courier. Cell line specimens should arrive in the laboratory within 48 hrs of collection. Do not heat or freeze.
At least 20 ug with a minimum average concentration of 50 ng/μL.
Ship at room temperature in an insulated container by overnight courier. May also be shipped frozen on a minimum of 10 lbs of dry ice in an insulated container by overnight courier.
WHOLE GENOME SEQUENCING
Indications for Testing
MULTIPLE CONGENITAL ANOMALIES
AUTISM SPECTRUM DISORDERS
FAILURE TO THRIVE
PATIENTS WITH AN EXTENSIVE
Understanding the Results
Related to the Patient’s Indications
- Single nucleotide variants/indels
- Copy number variants (CNV)
- Structural variants (SV)
- Absence of Heterozygosity (AOH)
Unrelated to the Patient’s Indications (Opt-in only)
- Carrier findings
- Disorders recommended by the ACMG & ACOG
- Incidental finding
- Incidental findings recommended by the ACMG