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Laboratory
Leber Congenital Amaurosis - Retinal dystrophy, early onset (gene panel)
Leber Congenital Amaurosis - UGent
Leber congenital amaurosis
,
Cone rod dystrophy
,
Retinitis pigmentosa
,
Senior-Loken syndrome
,
Severe early-childhood-onset retinal dystrophy
Centrum Medische Genetica - UZ Gent
Hypercholesterolemia (9 genes)
LDLR
,
APOB
,
PCSK9
,
ABCG5
,
ABCG8
,
APOE
,
LDLRAP1
,
LIPA
,
STAP1
Hypercholesterolemia (9 genes) - UCL
Homozygous familial hypercholesterolemia
Centre de Génétique Médicale UCL
Hypercholesterolemia, Familial (Gene Panel)
LDLR
,
APOB
,
APOE
,
PCSK9
,
LDLRAP1
Familial Hypercholesterolemia (9 genes) - IPG
Homozygous familial hypercholesterolemia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypercholesterolemia, Familial (gene panel)
Familial Hypercholesterolemia panel (8 genes) - UZA
Homozygous familial hypercholesterolemia
Centrum Medische Genetica - UZ Antwerpen
Hypercholesterolemia, Familial (9 genes)
LDLR
,
APOB
,
APOE
,
PCSK9
,
ABCG5
,
ABCG8
,
LDLRAP1
,
LIPA
,
STAP1
Familial Hypercholesterolemia panel (9 genes) - ULG
Homozygous familial hypercholesterolemia
,
Heterozygous familial hypercholesterolemia (NON RARE IN EUROPE)
,
Sitosterolemia
,
Cholesteryl ester storage disease
Centre de Génétique Humaine - CHU Sart-Tilman
Hypercholesterolemia, Familial (4 genes)
LDLR
,
APOB
,
APOE
,
PCSK9
Familial Hypercholesterolemia panel (4 genes) - KUL
Homozygous familial hypercholesterolemia
Centrum Menselijke Erfelijkheid - KUL
Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome
FOXP3
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Centrum Menselijke Erfelijkheid - KUL
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