-
Saethre-Chotzen syndrome (deletion/duplication analysis on TWIST1 gene)
+ info
-
Salla disease (sequence analysis of SLC17A5 gene)
+ info
-
Sanjad-Sakati syndrome | Kenny-Caffey syndrome (deletion/duplication analysis on TBCE gene)
+ info
-
Sanjad-Sakati syndrome | Kenny-Caffey syndrome (sequence analysis of TBCE gene)
+ info
-
Sarcoglycanopathies (NGS panel of 5 genes)
+ info
-
Sarcoidosis 2 susceptibility (deletions/duplications in BTNL2 gene)
+ info
-
Scalp-ear-nipple syndrome (sequence analysis of KCTD1 gene)
+ info
-
Scapuloperoneal syndrome, neurogenic, Kaeser type | Myopathy, myofibrillar, 1 | Cardiomyopathy, dilated, 1I (deletion/duplication analysis of DES gene)
+ info
-
Schaaf-Yang syndrome (deletion/duplication analysis of MAGEL2 gene)
+ info
-
Schaaf-Yang syndrome (sequence analysis of MAGEL2 gene)
+ info
-
Schimke immunoosseous dysplasia (sequece analysis of SMARCAL1 gene)
+ info
-
Schindler disease, types I and III | Kanzaki disease (deletion/duplication analysis of NAGA)
+ info
-
Schinzel-Giedion syndrome (sequence analysis of SETBP1 gene)
+ info
-
Schizencephaly (sequence analysis of EMX2 gene)
+ info
-
Schizophrenia susceptibility | Amyotrophic lateral sclerosis susceptibility (sequence analysis of DAO gene)
+ info
-
Schneckenbecken dysplasia (sequence analysis of SLC35D1 gene)
+ info
-
Schnyder corneal dystrophy (sequence analysis of UBIAD1 gene)
+ info
-
Schwannomatose | Noonan syndrome 10 (deletion/duplication analysis on LZTR1 gene)
+ info
-
Schwannomatosis (deletion/duplication analysis of SMARCB1 gene)
+ info
-
Schwannomatosis (sequence analysis of LZTR1 gene)
+ info
