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Analytes
Gene panels
Disease
Laboratory
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 (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
Perrault syndrome (gene panel)
TWNK
,
CLPP
,
HARS2
,
HSD17B4
,
LARS2
Perrault syndrome (5 genes) - UZA
Perrault syndrome
Centrum Medische Genetica - UZ Antwerpen
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
Autosomal dominant non-syndromic sensorineural deafness type DFNA9 (COCH partial sequencing)
COCH
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hearing loss (deafness), autosomal dominant 9 (COCH exons 4 and 5)
COCH
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Centrum Medische Genetica - UZ Antwerpen
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