Neurology / Neuropediatrics
-
Aarskog syndrome (sequence analysis of FGD1 gene)
+ info
-
Abetalipoproteinemia (sequence analysis of MTTP 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
-
Aconitase deficiency (sequence analysis of ISCU gene)
+ info
-
Acrofacial dysostosis, Weyers type (sequence analysis of 22 exon of EVC2 gene)
+ info
-
ACTH-independent macronodular adrenal hyperplasia 2 (sequence analysis of ARMC5 gene)
+ info
-
Acute intermittent porphyria (deletion/duplication analysis on HMBS gene)
+ info
-
Acute porphyrias (sequence analysis of CPOX, PPOX and HMBS genes)
+ info
-
Acyl-CoA peroxisomal oxidase deficiency (sequence analysis of ACOX1 gene)
+ info
-
Adams-Oliver syndrome (sequence analysis of DLL4 gene)
+ info
-
Adenylosuccinase deficiency (sequence analysis of ADSL gene)
+ info
-
Adrenoleukodystrophy (sequence analysis of ABCD1 gene)
+ info
-
Agenesis of the corpus callosum with peripheral neuropathy (deletion/duplication analysis on SLC12A6 gene)
+ info
-
Agenesis of the corpus callosum with peripheral neuropathy (sequence analysis of SLC12A6 gene)
+ info
-
Aicardi syndrome (sequence analysis of OCEL1 gene)
+ info
-
Aicardi syndrome (sequence analysis of TEAD1 gene)
+ info
-
Aicardi-Goutieres syndrome (NGS panel of 7 genes)
+ info
-
Aicardi-Goutieres syndrome 1 (deletion/duplication on TREX1 gene)
+ info
-
Aicardi-Goutieres syndrome 1 (sequence analysis of TREX1 gene)
+ info
-
Aicardi-Goutieres syndrome 2 (sequence analysis of RNASEH2B gene)
+ info