GeneSeq® Cardio: Familial Congenital Heart Disease Panel
Also known as: Atrial septal defects, CHARGE syndrome
Use
This test is used for diagnostic testing for congenital heart disease, including atrial septal defects and CHARGE syndrome. It also is used for presymptomatic testing for family members.
Special Instructions
Not provided.
Limitations
The technologies employed do not detect germline mosaicism or large chromosomal aberrations including rearrangements and gene fusions, nor do they account for regions or genes not included in this test. Inter/intragenic variant interactions or repeat expansions are not assessed. Variant classification can evolve over time with new data. False results may arise due to rare variants, chromosomal anomalies, pseudogenes, sample mix-ups, or family relationship errors.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 48018-6 - Gene studied ID
- 42784-9 - Ethnic Background Stated
- 31208-2 - Specimen source
- 89993-0 - Clinical genetics Counseling note
- 42349-1
- 48003-8 - DNA seq var ID
- 53039-4 - Gene dis anl carrier interp-Imp
- 77202-0 - Laboratory comment Report
- 62385-0 - Recommendation Patient Doc-Imp
- 55752-0 - Clinical info
- 8251-1 - Service Cmnt-Imp
- 49549-9 - Ref lab test method
- 75608-0 - Citation Ref Lab Test
- 72486-4 - Lab director name Provider
- 51969-4 - Gene analysis narr rpt Doc
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
8.5 mL
Minimum Volume
3 mL
Container
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy required.
Patient Preparation
Do not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
Other tests from different labs that may be relevant