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Analytes
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Disease
Laboratory
Hypogonadism. Male Infertility (LHB gene)
LHB
Leydig cell hypoplasia due to LHB deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Adrenogenital syndrome
CYP21A2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
,
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Centrum Medische Genetica - UZ Antwerpen
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
Myeloid neoplasms with germline predisposition (Hereditary MDS/Acute Leukemia) (gene panel)
Hereditary Myelodysplastic /Acute Leukemia Predisposition Syndromes (gene panel)
B-cell chronic lymphocytic leukemia
,
Inherited acute myeloid leukemia
,
Chronic myeloid leukemia
,
Atypical chronic myeloid leukemia
,
Precursor B-cell acute lymphoblastic leukemia
,
Familial platelet disorder with associated myeloid malignancy
,
DDX41-related hematologic malignancy predisposition syndrome
,
Idiopathic aplastic anemia
Centre de Génétique Humaine - CHU Sart-Tilman
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