Genetic tests

Full name Analytes Gene panels Disease Laboratory
Primary Ciliary Dyskinesia (gene panel) Primary Ciliary Dyskinesia (61 genes) - KUL Primary ciliary dyskinesia Centrum Menselijke Erfelijkheid - KUL
Keratinopathic ichthyosis (epidermolytic ichtyosis, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma) (3 genes) keratinopathic ichthyosis (3 genes) - KUL Autosomal dominant epidermolytic ichthyosis, Superficial epidermolytic ichthyosis, Congenital reticular ichthyosiform erythroderma Centrum Menselijke Erfelijkheid - KUL
Amyotrophic Lateral Sclerosis (ALS) (gene panel) Amyotrophic Lateral Sclerosis (ALS) - UGent Amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 4 Centrum Medische Genetica - UZ Gent
Amyotrophic lateral sclerosis (ALS) / Frontotemporal demention (FTD) - GGGGCC repeat expansion in C9ORF72 C9ORF72 Amyotrophic lateral sclerosis type 4, Frontotemporal dementia with motor neuron disease Centrum Medische Genetica - UZ Gent
Colon carcinoma (hereditary/familial) (gene panel) Colon carcinoma (hereditary/familial) (gene panel) (12 genes) - VUB APC-related attenuated familial adenomatous polyposis, Familial adenomatous polyposis, Familial colorectal cancer Type X, Generalized juvenile polyposis/juvenile polyposis coli, Hereditary mixed polyposis syndrome, Hereditary nonpolyposis colorectal cancer, Lynch syndrome, MUTYH-related attenuated familial adenomatous polyposis Centrum Medische Genetica - UZ Brussel VUB
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