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
The specific genes to be analyzed must be indicated on the test requisition form, otherwise testing may be delayed. Specimens from both parents and other family members might be required. All fetal specimens, including cord blood, must be accompanied by a maternal blood or Oragene Dx 500 saliva kit to avoid maternal cell contamination. Consultation with a laboratory genetic coordinator is encouraged before specimen collection.
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
- 19102-3
- 42784-9
- 31208-2
- 89993-0
- 42349-1
- 11951-1
- 50397-9
- 53039-4
- 8262-8
- 59266-7
- 62385-0
- 55752-0
- 8251-1
- 49549-9
- 75608-0
- 72486-4
- 51969-4
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