-
Aarskog syndrome (deletion/duplication analysis on FGD1 gene)
+ info
-
Aarskog syndrome (sequence analysis of FGD1 gene)
+ info
-
Abetalipoproteinemia (sequence analysis of MTTP gene)
+ info
-
ABO blood group genotyping (sequence analysis of exons 6 and 7 of ABO gene)
+ info
-
Absence of ulna and fibula, with severe limb deficiency | Fuhrmann syndrome (deletion/duplication analysis of WNT7A gene)
+ info
-
Achondrogenesis type 2 (sequence analysis of COL2A1 gene)
+ info
-
Achondrogenesis type IA (sequence analysis of TRIP11 gene)
+ info
-
Achondroplasia (sequence analysis of exon 9 of FGFR3 gene)
+ info
-
Achondroplasia | Hypochondroplasia | Thanatophoric dysplasia types I & II | SADDAN dysplasia | Crouzon syndrome with acanthosis nigricans | CATSHL syndrome | LADD syndrome (sequence analysis of FGFR3 gene)
+ info
-
Achromatopsia (disease exome based NGS panel for 6 genes)
+ info
-
Achromatopsia 2 (sequence analysis of CNGA3 gene)
+ info
-
Achromatopsia 2 (sequence analysis of PDE6C gene)
+ info
-
Achromatopsia 3 (sequence analysis of CNGB3 gene)
+ info
-
Achromatopsia 4 (sequence analysis of GNAT2 gene)
+ info
-
Achromatopsia 6 (sequence analysis of PDE6H gene)
+ info
-
Acne inversa (sequence analysis of NCSTN gene)
+ info
-
Aconitase deficiency (sequence analysis of ISCU gene)
+ info
-
AcquiredMyelodysplastic syndrome (sequence analysis of SF3B1 gene)
+ info
-
Acrodermatitis enteropathica (sequence analysis of SLC39A4 gene)
+ info
-
Acrodysostosis (sequence analysis of PDE4D gene)
+ info
