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Analytes
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Disease
Laboratory
Homocystinuria (hot spot mutation - c.677C>T)
MTHFR
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Homocystinuria (hot spot mutation - c.1298A>C)
MTHFR
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
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
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis
COL2A1
Achondrogenesis type 2
,
Hypochondrogenesis
,
Kniest dysplasia
,
Multiple epiphyseal dysplasia, Beighton type
,
Spondyloepiphyseal dysplasia congenita
,
Stickler syndrome type 1
Centrum Medische Genetica - UZ Gent
Stickler syndrome (gene panel)
Stickler syndrome - UGent
Stickler syndrome type 1
,
Stickler syndrome type 2
,
Autosomal dominant otospondylomegaepiphyseal dysplasia
Centrum Medische Genetica - UZ Gent
Stickler syndrome (gene panel)
COL2A1
,
COL11A1
,
COL9A1
,
COL9A2
Stickler syndrome (4 genes) - UZA
Stickler syndrome type 1
,
Stickler syndrome type 2
,
Autosomal recessive Stickler syndrome
Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (SCA) types 8, 10, 12, 17 - repeat expansion
ATXN8
,
ATXN10
,
PPP2R2B
,
TBP
Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA
Spinocerebellar ataxia type 8
,
Spinocerebellar ataxia type 10
,
Spinocerebellar ataxia type 12
,
Spinocerebellar ataxia type 17
Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion
ATXN8
,
TBP
,
ATN1
Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB
Spinocerebellar ataxia type 8
,
Spinocerebellar ataxia type 17
,
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Brussel VUB
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