Noonan Spectrum Disorders Panel, Sequencing, Fetal
Also known as: NOONAN FE
Use
This test is used to confirm the diagnosis of a Noonan spectrum disorder (NSD) in a pregnancy with clinically suggestive findings, such as increased nuchal translucency, cystic hygroma, and cardiac defects. It tests for disorders caused by variants in genes involved in the Ras/mitogen activated protein kinase (MAPK) pathway, including Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome, LEOPARD syndrome, Legius syndrome, and Noonan-like syndrome with loose anagen hair.
Special Instructions
Counseling and informed consent are recommended for genetic testing. Consent forms are available online. Submit a Non-Permitted Laboratory Request Form (NPL) to the NYDOH prior to collection of specimen for New York patients.
Limitations
A negative result does not exclude a diagnosis of a MAPK pathway disorder. The test only detects variants within the coding regions and intron-exon boundaries of the targeted genes. Regulatory region variants and deep intronic variants will not be identified. Deletions, duplications, insertions, and other variants may not be detected. Diagnostic errors can occur due to rare sequence variations, and the presence of pseudogenes, repetitive, or homologous regions may impede detection. This assay may not detect low-level somatic variants.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Cultured Cells
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Cultured Amniocytes or Cultured CVS: Fill flasks with culture media. Transport two T-25 flasks at 90 percent confluent of cultured cells filled with culture media. Backup cultures must be retained at the client's institution until testing is complete. If ARUP receives a sample below the minimum confluence, CG GRW&SND (0040182) will be added on by ARUP, and additional charges will apply.
Storage Instructions
CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to lability of cells.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | Unacceptable |
| Frozen | Unacceptable |
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