GeneSeq® PLUS, Fetal Analysis
Also known as: Full gene sequencing, gene specific sequencing
Use
This test is used for prenatal diagnosis for pregnancies at risk for genes included in any Inheritest® or GeneSeq®: Cardio panel except for SMN1 and FMR1. To order single gene analysis, use Spinal Muscular Atrophy (SMA), Fetal Analysis [481651] and Fragile X Syndrome, Fetal Analysis [481718].
Special Instructions
Not provided.
Limitations
This test does not detect germline mosaicism, large chromosomal aberrations, rearrangements, gene fusions, variants outside the tested regions, or interactions between variants and repeat expansions. Variant classification may change over time as more information becomes available. Possible reasons for false results include rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic mosaicism, sample mislabeling, or incorrect family relationship representation. Testing does not include SMN1 and FMR1 genes.
Methodology
NGS
Biomarkers
LOINC Codes
- 8251-1 - Service Cmnt-Imp
- 19102-3 - Genetic scn Spec
- 42784-9 - Ethnic Background Stated
- 31208-2 - Specimen source
- 89993-0 - Clinical genetics Counseling note
- 42349-1
- 11951-1 - Fet ID
- 50397-9 - Mol dx interp Bld/T Ql
- 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
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
20 mL
Minimum Volume
20 mL
Container
sterile plastic conical tube or T-25 flask
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