Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Pediatric oncopredisposition (gene panel) Pediatric oncopredisposition - UGent Centrum Medische Genetica - UZ Gent
Arrhytmogenic cardiopathy Arrhytmogenic cardiopathy - UGent Centrum Medische Genetica - UZ Gent
Dilated cardiomyopathy Dilated cardiomyopathy - UGent Centrum Medische Genetica - UZ Gent
VEXAS-syndrome UBA1 VEXAS syndrome Centrum Medische Genetica - UZ Gent
Supravalvular aortic stenosis ELN Centrum Medische Genetica - UZ Gent
Fertilisation failure-oocyte maturation arrest-embryonic arrest (gene panel) Subfertility, infertility and gamete malfunction - UGent Centrum Medische Genetica - UZ Gent
Myopia (early onset high myopia) Myopia gene panel - UGent Centrum Medische Genetica - UZ Gent
Craniosynostosis (gene panel) Craniosynostosis (UZ Gent) 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
Tuberous sclerosis TSC1, TSC2 Tuberous sclerosis complex Centrum Medische Genetica - UZ Gent
Treatable intellectual disability (tID) Treatable intellectual disability (tID) Centrum Medische Genetica - UZ Gent
Breast and Ovarian Cancer, HBOC, Hereditary Breast and ovarian cancer - UGent Hereditary breast cancer, Hereditary breast and/or ovarian cancer syndrome Centrum Medische Genetica - UZ Gent
Cardiomyopathy, hypertrophic Hypertrophic cardiomyopathy - UGent Familial isolated dilated cardiomyopathy Centrum Medische Genetica - UZ Gent
Cataract (gene panel) Cataract - UGent Centrum Medische Genetica - UZ Gent
Disorders of sex development - Primary Ovarian insufficiency - Hypogonadotropic Hypogonadism (gene panel) Disorders of Sex Development - Primary Ovarian Insufficiency - Hypogonadotropic Hypogonadism - UGent Centrum Medische Genetica - UZ Gent
Microphthalmia / Anophthalmia / Coloboma-Anterior Segment Dysgenesis (MAC-ASD) (gene panel) Microphthalmia/Anophthalmia/Coloboma - Anterior Segment Dysgenesis - UGent Centrum Medische Genetica - UZ Gent
Stickler syndrome (gene panel) Stickler syndrome - UGent Stickler syndrome type 1, Stickler syndrome type 2, Autosomal dominant otospondylomegaepiphyseal dysplasia Centrum Medische Genetica - UZ Gent
Ehlers-Danlos syndroom, EDS (gene panel) Ehlers-Danlos syndrome -UGent Centrum Medische Genetica - UZ Gent
Osteogenesis imperfecta / Osteoporose (gene panel) Osteogenesis imperfecta and Osteoporosis (43 genes) - UGent Centrum Medische Genetica - UZ Gent