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
- DNA , Blood , DNA (Not Accepted for MLPA)
- Indications
- Carrier Cascade Testing , Diagnosis , Prenatal
- Test Methodology
- Sequencing , CNV
- 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