Stickler Syndrome Panel, Sequencing
Also known as: SS NGS
Use
Stickler syndrome and related disorders are connective tissue disorders characterized by ocular abnormalities, hearing loss, and skeletal or joint problems. This test is used to confirm a diagnosis of Stickler syndrome or related conditions by detecting pathogenic germline variants in genes associated with collagen formation. The clinical sensitivity is variable and depends on the phenotype. Most cases are autosomal dominant, with rare autosomal recessive causes. The test includes the genes COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, and VCAN.
Special Instructions
Not provided.
Limitations
A negative result does not exclude a diagnosis of Stickler syndrome or a related disorder. This test only detects variants within the coding regions and intron-exon boundaries of the targeted genes. It does not identify regulatory region variants, deep intronic variants, or specify breakpoints of large deletions/duplications. Deletions/duplications/insertions of any size may not be detected by massive parallel sequencing. Diagnostic errors can occur due to rare sequence variations or technical limitations in regions with pseudogenes or homologous sequences. Non-coding transcripts are not analyzed.
Methodology
NGS
Biomarkers
LOINC Codes
- 31208-2 - Specimen source
- 35474-6 - Gene XXX Mut Anl Bld/T
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1.5 mL
Container
Lavender (EDTA) or yellow (ACD solution A or B). For New York State Clients: Lavender (EDTA)
Storage Instructions
Refrigerated transport.
Causes for Rejection
Serum or plasma, grossly hemolyzed or frozen specimens
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant