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Laboratory
Pancreatitis, hereditary (7 genes)
CASR
,
CFTR
,
CLDN2
,
CPA1
,
CTRC
,
PRSS1
,
SPINK1
Pancreatitis (7 genes) - UCL
Hereditary chronic pancreatitis
Centre de Génétique Médicale UCL
Pancreatitis, hereditary (7 genes)
CASR
,
CFTR
,
CLDN2
,
CPA1
,
CTRC
,
PRSS1
,
SPINK1
Pancreatitis (7 genes) - ULB
Hereditary chronic pancreatitis
Centre de Génétique Humaine - Erasme ULB
Pancreatitis, idiopathic or hereditary (7 genes)
CFTR
,
SPINK1
,
PRSS1
,
CTRC
,
CASR
,
CLDN2
,
CPA1
Pancreatitis (7 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Blepharophimosis type I /II
FOXL2
Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
,
Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
Centrum Medische Genetica - UZ Gent
X-linked Opitz G/BBB syndrome
MID1
X-linked Opitz G/BBB syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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 (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
Mental retardation, X-linked, syndromic, Borck type
EIF2S3
MEHMO syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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