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Patiëntenzorg Onderzoeken Erfelijkheidsonderzoek Exoomanalyse Exoompanels huidige en voorgaande versies Exoompanels huidige en voorgaande versies
Our exome panels are regularly updated by adding genes or removing genes from the panel.
Results (39)

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ALS

Ciliopathies

Comprehensive preconception carrier test

Congenital heartdisease

Craniofacial anomalies

Disorders/differences of sex development (DSD) / Primary adrenal insufficiency

Dyskeratosis congenita and aplastic anemia

Epilepsy

Fetal akinesia

Hearing impairment

Heart

Hemostatic/thrombotic disorders

Hereditary cancer

Hereditary neurological pain disorders

Hypogonado­tropic hypogonadisme

Inherited bone marrow failure and/or predisposition to hematological malignancies

Intellectual disability

Iron disorders

Liver disorders

Male infertility

Mendeliome

Metabolic disorders

Mitochondrial disorders

Movement disorders

Multiple congenital anomalies

Muscle disorders

Neuropathies

Noonan syndrome / RASopathy

Painful peripheral neuropathies

Painless peripheral neurpathies

Parkinson

Primary immuno­deficiencies

Renal disorders

Severe combined immunodeficiency (SCID)

Short stature/skeletal dysplasia

Skin disorders

Sonic hedgehog medulloblastoma

Tall stature

Vision disorders