Congenital Heart Disease Gene Panel, Varies
Use
This test provides a genetic evaluation for patients with a personal or family history of congenital heart disease. It aids in establishing a diagnosis of a genetic condition associated with congenital heart disease. Identification of disease-causing variants may help with diagnosis, prognosis, clinical management, familial screening and genetic counseling for congenital heart disease. The test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 44 genes associated with isolated and syndromic congenital heart disease.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all types of genomic variants. There may be variable depth of coverage for some gene regions, and technical limitations exist for regions of homology, high guanine-cytosine content, and repetitive sequences. False-negative or false-positive results may occur, and negative results do not rule out genetic disorders. Mosaicism is difficult to detect. Sensitivity is above 99% for single nucleotide variants and varies for deletions and insertions.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51966-0 - Gene dis DNA anl Pnl
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for such cases, call 800-533-1710.