Noonan Spectrum Disorders Panel, Sequencing

Casandra

Casandra Test Code AR06417Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 2010772CPT Code 81442

Noonan Spectrum Disorders Panel, Sequencing

Also known as: NOONAN SEQ

Clinical Use

Order Test

Use

This test is used to confirm a suspected clinical diagnosis of several disorders within the Noonan spectrum, including Noonan syndrome, cardiofacial cutaneous syndrome, Costello syndrome, Legius syndrome, Noonan syndrome with multiple lentigines (LEOPARD syndrome), Noonan-like syndrome, and Noonan-like syndrome with loose anagen hair. These disorders are caused by pathogenic germline variants in genes involved in the Ras/mitogen-activated protein kinase (MAPK) pathway, which are involved in various physiological development processes. Symptoms vary widely but can include short stature, heart defects, developmental delays, coagulation defects, lymphatic dysplasia, and undescended testes.

Special Instructions

Counseling and informed consent are recommended for genetic testing. Consent forms are available online. A Non-Permitted Laboratory Request Form (NPL) must be submitted to NYDOH prior to collection if testing is needed for patients in New York.

Limitations

This 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 greater than 10 base pairs have reduced detection sensitivity. Diagnostic errors can occur due to rare sequence variations and technical limitations in regions with pseudogenes, repetitive, or homologous sequences. The assay may not detect low-level somatic variants. Non-coding transcripts were not analyzed.

Test Details