Mevalonate kinase deficiency / Hyper-IgD Syndrome

Test Code
3300582
Analysis Method
Sequence analysis
Sample Type
AS, CVS, EDTA blood
Sample Amount
2-3 ml
Delivery Time
40

Gene / Region Examined

MVK - Exon 1, MVK - Exon 10, MVK - Exon 11, MVK - Exon 2, MVK - Exon 3, MVK - Exon 4, MVK - Exon 5, MVK - Exon 6, MVK - Exon 7, MVK - Exon 8, MVK - Exon 9

Description

AS: Amniocentesis KS:Cordocentesis CVS: Chorionic villus