Sickle Cell, Fetal Analysis
Also known as: Sickle cell disease; hemoglobin SC disease
Use
This test is for fetal testing only. It is not intended for routine sickle cell screening.
Special Instructions
Not provided.
Limitations
The test does not detect germline mosaicism, large chromosomal aberrations such as rearrangements and gene fusions, variants in genes not included in the test, or interactions between variants or repeat expansions. Results may be influenced by factors such as rare genetic variants, sample labeling errors, blood transfusions, bone marrow transplants, or tissue mosaicism. The test has not been approved by the FDA, and classification or interpretation of variants may change over time as new information becomes available.
Methodology
Sanger
Biomarkers
HBB
Gene
LOINC Codes
- 42784-9 - Ethnic Background Stated
- 31208-2 - Specimen source
- 89993-0 - Clinical genetics Counseling note
- 42349-1
- 11951-1 - Fet ID
- 21689-5 - HBB gene Mut Anl Bld/T
- 53039-4 - Gene dis anl carrier interp-Imp
- 8262-8 - Service Cmnt 02-Imp
- 59266-7 - Maternal Cell Contam Spec
- 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
8-14 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
10 mL
Minimum Volume
10 mL
Container
sterile plastic conical tube
Collection Instructions
Standard sterile techniques; transfer aseptically to sterile tubes. Discard first 2 mL of fluid aspirated to avoid maternal cell contamination.
Storage Instructions
Maintain specimen at room temperature. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Other tests from different labs that may be relevant