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
- Test Name (CMS Title)
-
Simpson-Golabi-Behmel Syndrome
- Gene/Platform/Region List
-
GPC3, GPC4
- Test type
- Samples Accepted
- Blood, DNA, DNA (Not Accepted for MLPA)
- Indications
- Diagnostics, Carrier Cascade Testing
- Test Methodology
- 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: 09 décembre 2025