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Analytes
Gene panels
Disease
Laboratory
Hearing loss, STRC gene
STRC
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centrum Medische Genetica - UZ Antwerpen
Germline analysis of BRCA1/2 for iPARP treatment
BRCA1
,
BRCA2
Germline analysis of BRCA1/2 for iPARP treatment
Hereditary breast cancer
Centre de Génétique Humaine - CHU Sart-Tilman
Li-Fraumeni syndrome
TP53
Li-Fraumeni syndrome
Centrum Menselijke Erfelijkheid - KUL
Silver-Russell syndrome (11p15 methylation)
Centrum Menselijke Erfelijkheid - KUL
Hyperparathyroidism (gene panel)
AIP
,
MEN1
,
CDKN1B
,
PRKAR1A
,
RET
Familial isolated hyperparathyroidism
Centre de Génétique Humaine - CHU Sart-Tilman
Tuberous sclerosis
TSC1
,
TSC2
Tuberous sclerosis complex
Centrum Medische Genetica - UZ Gent
Multiple endocrine neoplasia type 1 and 4 (MEN1; CDKN1B genes)
MEN1
,
CDKN1B
Multiple endocrine neoplasia type 1
,
Multiple endocrine neoplasia type 4
Centrum Menselijke Erfelijkheid - KUL
Multiple endocrine neoplasia type 2A and 2B / Familial medullary thyroid carcinoma
RET
Multiple endocrine neoplasia type 2B
,
Multiple endocrine neoplasia type 2A
,
Familial medullary thyroid carcinoma
Centrum Menselijke Erfelijkheid - KUL
Paraganglioma-pheochromocytoma (gene panel)
Paraganglioma-pheochromocytoma (8 genes) - KUL
Hereditary pheochromocytoma-paraganglioma
Centrum Menselijke Erfelijkheid - KUL
Rett syndrome / MECP2 Duplication Syndrome
MECP2
Rett syndrome
Centrum Menselijke Erfelijkheid - KUL
Spastic paraplegia-4
SPAST
Autosomal dominant spastic paraplegia type 4
Centrum Menselijke Erfelijkheid - KUL
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
SMN1
,
SMN2
Proximal spinal muscular atrophy type 1
,
Proximal spinal muscular atrophy type 2
,
Proximal spinal muscular atrophy type 3
,
Proximal spinal muscular atrophy type 4
Centrum Menselijke Erfelijkheid - KUL
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centre de Génétique Médicale UCL
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c )
Yq11
Partial chromosome Y deletion
Centre de Génétique Médicale UCL
Beckwith-Wiedemann syndrome
11p15.5
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
,
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Centre de Génétique Médicale UCL
Beta-globin hemoglobinopathies
HBB
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
,
Sickle cell-beta-thalassemia disease syndrome
,
Sickle cell-hemoglobin D disease syndrome
,
Sickle cell-hemoglobin E disease syndrome
,
Sickle cell-hemoglobin C disease syndrome
,
Hemoglobin E-beta-thalassemia syndrome
,
Hemoglobin C-beta-thalassemia syndrome
,
Delta-beta-thalassemia
,
Beta-thalassemia intermedia
,
Beta-thalassemia major
,
Dominant beta-thalassemia
,
Hemoglobin C disease
,
Hemoglobin D disease
,
Hemoglobin E disease
,
Hemoglobin M disease
,
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
,
Sickle cell anemia
Centre de Génétique Médicale UCL
Coagulopathies (2 genes)
ITGA2B
,
ITGB3
Autosomal dominant macrothrombocytopenia
,
Glanzmann thrombasthenia
,
Fetal and neonatal alloimmune thrombocytopenia
Centre de Génétique Médicale UCL
Hemophilia A
F8
Hemophilia A
,
Severe hemophilia A
,
Moderate hemophilia A
,
Mild hemophilia A
,
Bleeding disorder in hemophilia A carriers
Centre de Génétique Médicale UCL
Hemophilia B
F9
Hemophilia B
,
Severe hemophilia B
,
Moderate hemophilia B
,
Mild hemophilia B
,
Bleeding disorder in hemophilia B carriers
Centre de Génétique Médicale UCL
Male infertility
Yq11
,
CFTR
,
USP9Y
Partial chromosome Y deletion
,
Congenital bilateral absence of vas deferens
Centre de Génétique Médicale UCL
Pagination
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