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Analytes
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Overgrowth & vascular anomalies / Proteus syndrome (c.49G>A (p.Glu17Lys) mutation)
AKT1
Proteus syndrome
Centrum Menselijke Erfelijkheid - KUL
Venous malformation (3 genes)
TEK
,
GLMN
Venous malformation (3 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Blue rubber bleb nevus
,
Mucocutaneous venous malformations
,
Glomuvenous malformation
,
Bannayan-Riley-Ruvalcaba syndrome
,
Cowden syndrome
,
Juvenile polyposis of infancy
,
Proteus syndrome
,
Proteus-like syndrome
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Centre de Génétique Médicale UCL
Cowden disease / PTEN hamartoma tumor syndrome
PTEN
Cowden syndrome
,
Bannayan-Riley-Ruvalcaba syndrome
,
Proteus syndrome
Centrum Medische Genetica - UZ Gent
Vascular malformations (somatic)
AKT1
,
AKT2
,
AKT3
,
ALK
,
BRAF
,
GNA11
,
GNA14
,
GNAQ
,
HRAS
,
IDH1
,
IDH2
,
KRAS
,
NRAS
,
PIK3CA
,
PIK3R1
,
PIK3R2
,
PTEN
,
TEK
,
MAP3K3
,
MAP2K1
Vascular malformations (somatic) (19 genes) - UCL
Capillary malformation-arteriovenous malformation
,
CLOVES syndrome
,
Maffucci syndrome
,
Proteus syndrome
Centre de Génétique Médicale UCL
Keratinopathic ichthyosis (epidermolytic ichtyosis, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma) (3 genes)
keratinopathic ichthyosis (3 genes) - KUL
Autosomal dominant epidermolytic ichthyosis
,
Superficial epidermolytic ichthyosis
,
Congenital reticular ichthyosiform erythroderma
Centrum Menselijke Erfelijkheid - KUL
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM gene)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centrum Medische Genetica - UZ Brussel VUB
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel)
Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG
Alport syndrome
,
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
,
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
,
Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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