Stickler Syndrome Panel, Sequencing

Casandra

Casandra Test Code AR74332Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001613CPT Code 81479

Stickler Syndrome Panel, Sequencing

Also known as: SS NGS

Clinical Use

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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

Counseling and informed consent are recommended for genetic testing. Consent forms are available online. Specimens from New York clients will be sent out to a New York state-approved laboratory. Patients must submit a Patient History for Stickler Syndrome Testing and Informed Consent for Genetic Testing with their order.

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.

Test Details