FISH Analysis, Smith‑Magenis Syndrome

Casandra

Casandra Test Code QD81894Version 1 (DRAFT)

Performing Lab

Lab Quest DiagnosticsLab Test ID N/A

FISH Analysis, Smith‑Magenis Syndrome

Clinical Use

Use

This test can detect microdeletions in the 17p11.2 region associated with Smith‑Magenis syndrome. Approximately 95% of patients with this syndrome have deletions detectable by fluorescence in situ hybridization targeting the critical region. It is intended for patients with clinical features suspicious for Smith‑Magenis syndrome or for those with a possible 17p deletion identified by standard chromosome analysis. ([saintfrancis.com](https://www.saintfrancis.com/physicians/laboratory-testing/cytogenetics/available-tests/fish-analysis-smith-magenis-syndrome?utm_source=openai))

Special Instructions

A Cytogenetics Laboratory Test Requisition must accompany the specimen. For further information, contact the Cytogenetics Laboratory at 918‑502‑1722. ([saintfrancis.com](https://www.saintfrancis.com/physicians/laboratory-testing/cytogenetics/available-tests/fish-analysis-smith-magenis-syndrome?utm_source=openai))

Limitations

Approximately 95% of patients with Smith‑Magenis syndrome have deletions detectable by this method; rare cases may have deletions outside the probed region or mosaicism evading detection. Uses dual‑color FISH on metaphase and interphase cells; limits of detection inherent to FISH resolution apply. ([saintfrancis.com](https://www.saintfrancis.com/physicians/laboratory-testing/cytogenetics/available-tests/fish-analysis-smith-magenis-syndrome?utm_source=openai))

Test Details