Genetic Test Details
FISH: Smith-Magenis syndrome
Test Information
- Titre
- FISH: Smith-Magenis syndrome
- Catégorie
- Chromosomal Anomalies
- Sub Category
- Smith-Magenis Syndrome
- Gene/Platform/Region List
- RAI1, 17p11.2
- Test type
- Cytogenetic
- Samples Accepted
- Blood , CVS , Amniocyte
- Indications
- Carrier Cascade Testing , Diagnosis , Prenatal
- Test Methodology
- FISH
- Methodology Notes
- Metaphase FISH
- Disease/Condition
- Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome)
Dernière Mise à Jour: 18 juin 2025