Genetic Test Details
Simpson-Golabi-Behmel Syndrome: GPC3 Sequencing, GPC3 and GPC4 Deletion/Duplication Analysis
Test Information
- Titre
-
Simpson-Golabi-Behmel Syndrome: GPC3 Sequencing, GPC3 and GPC4 Deletion/Duplication Analysis
- Catégorie
- Skeletal\Growth
- Sub Category
-
Simpson-Golabi-Behmel Syndrome
- Gene/Platform/Region List
-
GPC3, GPC4
- Test type
- Gene Panel
- Samples Accepted
- Blood , DNA , DNA (Not Accepted for MLPA)
- Indications
- Diagnostics , Carrier Cascade Testing , Prenatal
- Test Methodology
- CNV , Sequencing
- Methodology Notes
-
Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing; MLPA of GPC3 and GPC4
- Disease/Condition
-
Simpson-Golabi-Behmel Syndrome
Dernière Mise à Jour: 18 juin 2025