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Neurodevelopmental disorders (1300 genes)
Neurodevelopmental disorders (1300 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Dyslipidemia (gene panel)
Dyslipidemia ( 13 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Endocrine Disorders - Hyper(Hypo)parathyroidism (gene panel - 24 genes)
Endocrine Disorders - Hyper(Hypo)parathyroidism (24 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Prostate cancer susceptibility (7 genes)
Prostate cancer susceptibility (7 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Amyloidosis hereditary (gene panel)
Amyloidosis (3 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Endocrine Disorders - Hypothyroidism (gene panel - 42 genes)
Endocrine Disorders - Hypothyroidism (42 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Ataxia (autosomic dominant and recessive / except expansion of triplets) (gene panel - 722 genes)
Ataxia (348 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Thalassemia Alpha (2 genes)
HBA1
,
HBA2
Thalassemia Alpha (2 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Pulmonary Arterial Hypertension / Rendu Osler Weber disease (gene panel - 24 genes)
Pulmonary Arterial Hypertension (24 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Dermatogenetic panel, severe, rare and hereditary genodermatoses (gene panel - 394 genes)
Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Porphyria (10 genes)
Porphyria (10 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Early onset epileptic encephalopathy (gene panel - 845 genes)
Early onset epileptic encephalopathy (845 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Hemochromatosis (17 genes)
Hemochromatosis (17 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Hereditary Hemolytic Anemias due to unknown or doubtful origin (gene panel - 52 genes)
Hereditary Hemolytic Anemias (52 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Hereditary spastic paraplegia (gene panel - 249 genes)
Hereditary spastic paraplegia (188 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Periodic Fever (88 genes)
Periodic Fever (88 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Neuromuscular disorders (548 genes)
Neuromuscular disorders (548 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Congenital malformation (gene panel - 1721 genes)
Congenital malformation (1721 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Achondroplasia (hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centre de Génétique Humaine - Erasme ULB
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Prader-Willi syndrome due to imprinting mutation
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Centre de Génétique Humaine - Erasme ULB
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