-
C syndrome (deletion/duplication analysis of CD96 gene)
+ info
-
C syndrome (sequence analysis of CD96 gene)
+ info
-
C2 deficiency (sequence analysis of C2 gene)
+ info
-
C4B deficiency (sequence analysis of C4B gene)
+ info
-
CACH syndrome / Leukoencephalopathy with Vanishing White Matter (NGS panel of 5 genes)
+ info
-
CACH syndrome/Leukoencephalopathy with vanishing white matter (deletion/duplication analysis of EIF2B4 gene)
+ info
-
CADASIL (deletion/duplication analysis of NOTCH3 gene)
+ info
-
CADASIL (sequence analysis of exons 2-6 and 11 of NOTCH3 gene)
+ info
-
CADASIL | Myofibromatosis, infantile 2 | Lateral meningocele syndrome (sequence analysis of NOTCH3 gene)
+ info
-
Campomelic dysplasia (deletion/duplication analysis on SOX9 gene)
+ info
-
Campomelic dysplasia (sequence analysis of SOX9 gene)
+ info
-
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (sequence analysis of PRG4 gene)
+ info
-
Camurati-Engelmann disease (sequence analysis TGFB1 of gene)
+ info
-
Canavan disease (deletion/duplication analysis on ASPA gene)
+ info
-
Canavan disease (sequence analysis of ASPA gene)
+ info
-
Candidiasis, familial (NGS panel for 5 genes)
+ info
-
Candidiasis, familial 2 AR (sequence analysis of CARD9 gene)
+ info
-
Candidiasis, familial 4 AR (sequence analysis of CLEC7A gene)
+ info
-
Candidiasis, familial 5 AR (sequence analysis of IL17RA gene)
+ info
-
Candidiasis, familial 6 AD (sequence analysis of IL17F gene)
+ info
