Noonan Spectrum Disorders Panel, Sequencing
Also known as: NOONAN SEQ
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
Not provided.
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.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
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