Noonan Syndrome and Related Conditions Gene Panel, Varies

Casandra

Casandra Test Code MC38716Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID NSRGGCPT Codes 81265, 81442, 88233, 88235, 88240

Noonan Syndrome and Related Conditions Gene Panel, Varies

Clinical Use

Use

This genetic test evaluates patients with personal or family histories suggestive of Noonan syndrome and related conditions like Noonan syndrome with multiple lentigines, Noonan syndrome with loose anagen hair, cardiofaciocutaneous syndrome, Costello syndrome, among others. It aids in diagnosing these conditions by detecting single nucleotide and copy number variants in 20 associated genes. This test is critical for establishing diagnoses, clinical management, familial screening, and genetic counseling for these syndromes.

Special Instructions

Prior authorization is available but not required. A comprehensive test order form should include physician's name and contact information. Skin biopsy is recommended for detecting germline variants if patients have an active hematological malignancy. The Noonan Spectrum Gene Testing Patient Information Sheet is strongly recommended to ensure a thorough interpretation of test results. Consultation for prenatal specimens is necessary.

Limitations

The test is not designed to detect somatic variant differences or low mosaicism. It may return false positives/negatives due to high GC content regions or homologous sequences that impact sequencing accuracy. It accurately detects 95% of insertions up to 75 bp and deletions up to 75 bp. Detection of deletions and duplications may not cover all regions effectively. The test may not identify mosaicism or differentiate somatic from germline variants.

Test Details

New York Approved