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Analytes
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Laboratory
Septo-optic dysplasia
HESX1
Septo-optic dysplasia spectrum
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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
Polycystic kidney disease type 1 and 2
PKD1
,
PKD2
Autosomal dominant polycystic kidney disease
,
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Centrum Medische Genetica - UZ Gent
Hyperthyroidism ( familial gestational or familial nonautoimmune, hypothyroidism, thyrotropin) - TSHR
TSHR
Familial hyperthyroidism due to mutations in TSH receptor
,
Hypothyroidism due to TSH receptor mutations
,
Familial gestational hyperthyroidism
Centre de Génétique Humaine - Erasme ULB
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