Noonan Spectrum Disorders Panel, Sequencing, Fetal

Also known as: NOONAN FE

Clinical Use

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

Not provided.

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.

Test Details

Methodology

NGS (Targeted)

Biomarkers

Mutation (16 genes)

BRAFCBLHRASKRASLZTR1MAP2K1MAP2K2NRASPTPN11RAF1RASA2RIT1SHOC2SOS1SOS2SPRED1

Result Turnaround Time

14-21 days

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.