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
Not provided.
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 - Noonan syn & rel cond multi anly Bld/T
- 48018-6 - Gene studied ID
- 42784-9 - Ethnic Background Stated
- 31208-2 - Specimen source
- 89993-0 - Clinical genetics Counseling note
- 42349-1
- 11951-1 - Fet ID
- 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