Genetic Test Details
Beckwith-Wiedemann Syndrome
Test Information
- Titre
- Beckwith-Wiedemann Syndrome
- Catégorie
- Skeletal\Growth
- Sub Category
- Beckwith-Wiedemann Syndrome
- Gene/Platform/Region List
- CDKN1C, H19 (IC1), KCNQ1 (IC2), 11p15
- Test type
- Single Gene
- Samples Accepted
- DNA , Blood , DNA (Not Accepted for MLPA)
- Indications
- Diagnosis , Prenatal
- Test Methodology
- CNV , Methylation
- Methodology Notes
- MLPA and STR of H19 (IC1) and KCNQ1 (IC2) region; UPD Analysis only 11p15; Gene Sequencing (Sanger - Robot); Targeted Sanger Sequencing
- Disease/Condition
- BWS, Wiedemann-Beckwith Syndrome, IMAGe Syndrome
Dernière Mise à Jour: 18 juin 2025