Noonan Syndrome, Fetal Analysis
Use
This test is used for prenatal diagnosis for at-risk pregnancies or when abnormalities are seen on fetal ultrasound.
Special Instructions
Labcorp clients with 8-digit client account numbers should call 800-345-4363 and Labcorp Genetics & Women's Health clients with 6-digit client/subclient account numbers should call 800-255-7357 to speak with a laboratory genetic coordinator before collecting specimens. In some circumstances, specimens from both parents and other family members may be required. All fetal specimens, including cord blood, must be accompanied by a maternal specimen for MCC. A separate requisition should be submitted with the maternal specimen.
Limitations
Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations, including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible interactions between variants. Variant classification and/or interpretation may change over time if more information becomes available. False positive or negative results may occur due to rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, or bone marrow transplantation.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 105199-4
- 48018-6
- 42784-9
- 31208-2
- 89993-0
- 42349-1
- 11951-1
- 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
Other tests from different labs that may be relevant