Genetic TestsBECKWITH WIEDEMANN 11p15 Hypomethylation Analysis

• Test Name: BECKWITH WIEDEMANN 11p15 Hypomethylation Analysis
• Test Code: 3628

• BECKWITH-WIEDEMANN SYNDROME (BWS) (OMIM #: 130650) || Gene: NSD1 (OMIM #: 606681) || Gene: H19 (OMIM #: 103280) || Gene: KCNQ1OT1 (OMIM #: 604115) || Gene: CDKN1C (OMIM #: 600856)

• EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME
• EMG SYNDROME
• WIEDEMANN-BECKWITH SYNDROME (WBS)

• Methodology: Methylation Analysis
• Reported: 3 weeks

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: 5-10 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Dysmorphology