Whole Genome Sequencing for Hereditary Disorders, Varies
Use
Whole genome sequencing serves as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders. It provides a comprehensive understanding of the natural history, prognosis, targeted management, and predictive testing of at-risk family members. It also serves as a second-tier test for negative previous genetic tests and is cost-effective compared to multiple independent assays.
Special Instructions
This test requires specific paperwork to proceed with testing. To avoid delays, fill out and submit the Whole Genome Sequencing: Ordering Checklist. One form should be submitted for the family. For family member specimens as comparators, order CMPRG / Family Member Comparator Specimen.
Limitations
Whole genome sequencing may not detect all genomic variants, and technical limitations include variable depth of coverage, homology regions, and repetitive sequences. False-negative results are possible, and additional testing may be needed for specific disorders if clinical suspicion exists. Prenatal specimens are not accepted, and this test is not appropriate for somatic variant identification in solid tumors or other malignancies.
New York Approved
Methodology
NGS (WGS)
Biomarkers
LOINC Codes
- 86206-0
- 69047-9
- 31208-2
- 18771-6
Result Turnaround Time
null-84 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD), acceptable: Green top (Sodium heparin)
Collection Instructions
Invert several times to mix. Send in original tube. Do not aliquot.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |