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Patient care Patient examinations Exome sequencing diagnostics Exome panels Exome panels Previous Versions
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