Genetic Test Details
Constitutional FISH panel: Smith-Magenis Syndrome
Test Information
- Titre
- Constitutional FISH panel: Smith-Magenis Syndrome
- Catégorie
- Chromosomal Anomalies
- Sub Category
- FISH: Smith-Magenis Syndrome
- Gene/Platform/Region List
- SHMT1/TOP3A/FLII/LLGL1
- Test type
- Cytogenetic
- Samples Accepted
- Skin Punch , Blood , Products of Conception , Cultured Cells , CVS , Amniocyte
- Indications
- Diagnosis , Prenatal
- Test Methodology
- FISH
- Methodology Notes
- Constitutional FISH
- Disease/Condition
- Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome)
Dernière Mise à Jour: 18 juin 2025