Genetic Test Details
Beckwith-Wiedemann Syndrome
Test Information
- Titre
-
Beckwith-Wiedemann Syndrome
- Catégorie
- Skeletal\Growth
- Sub Category
-
Beckwith-Wiedemann Syndrome
- Gene/Platform/Region List
-
11p15, CDKN1C, H19 (IC1), KCNQ1 (IC2)
- Test type
- Targeted Variant
- Samples Accepted
- Blood, DNA
- Indications
- Diagnostics, 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: 04 juin 2026
