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
- Blood , Cultured Cells , Amniocyte , CVS , Products of Conception , Skin Punch
- Indications
- Diagnostics , 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