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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
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