Noonan Syndrome and Related Conditions Gene Panel, Varies
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
Not provided.
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.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 105199-4 - Noonan syn & rel cond multi anly Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD); Acceptable: Green top (Sodium heparin)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |