Beckwith-Wiedemann Syndrome
Test Information
- Titre
-
Beckwith-Wiedemann Syndrome
- Catégorie
- Skeletal growth
- Test Name (CMS Title)
-
Beckwith-Wiedemann Syndrome
- Gene/Platform/Region List
-
CDKN1C, H19 (IC1), KCNQ1 (IC2), 11p15
- Test type
- Single Gene
- Samples Accepted
- Blood, DNA, DNA (Not Accepted for MLPA)
- Indications
- Diagnostics
- Test Methodology
- 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: 09 décembre 2025