Other
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22q11 MLPA
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PMS2 Analysis
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CTSF Analysis
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LMNB1 MLPA
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Microdeletions MLPA
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MLH1 Analysis
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MSH2 Analysis
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MSH6 Analysis
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MUTYH 2 founder mutations sequencing
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MUTYH Analysis
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PCD Volendam founder mutation
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PCH Volendam founder mutation
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NGS Amyotrophic lateral sclerosis ALS
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NGS Arrhythmia
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NGS Arthrogryposis
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WBS MLPA
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NGS BAP1 – HCS panel
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WT1 Analysis
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NGS Breast and ovarian cancer – HCS panel
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NGS Brugada syndrome
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NGS Aortic and arterial dilatation/dissection
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NGS Cardiomyopathy
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NGS Aortic and mitralis valve defects (additional panel)
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NGS Cone-rod dystrophy and macula degeneration
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NGS Congenital Heart Defects
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NGS Congenital stationary nightblindness
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NGS Cornelia de Lange syndrome
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NGS Disorder of sex development DSD
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NGS Epilepsy
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NGS Ehlers-Danlos syndromes
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NGS Cowden syndrome
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NGS Fetal akinesia deformation sequence FADS
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NGS Cutis laxa and related disorders
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NGS Gastric cancer – HCS-panel
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NGS Dementia
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NGS Glaucoma
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NGS Hemophagocytic syndrome (HLH)
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NGS Hyperinsulinism
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NGS Idiopathic pulmonary arterial hypertension
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NGS Leber’s congenital amaurosis LCA
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NGS Linkeropathies and related syndromes
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NGS Long QT-syndrome
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NGS Hypothyroidism
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NGS Lymphedema
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NGS Marfan syndrome and marfan-like disorders
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NGS Intellectual disability
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Interstitial lung disease ILD
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NGS MMR – HCS panel
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NGS Movement disorders
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NGS Lens luxation and related syndromes
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NGS Neonatal diabetes mellitus
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NGS Neurodegeneration with brain iron accumulation NBIA
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NGS Neuropathy/Charcot Marie Tooth
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NGS Obesitome
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NGS Hereditary cancer panel 1
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NGS Optic atrophy
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NGS Hereditary cancer panel 2
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NGS Microcephaly
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NGS Osteogenesis imperfecta and related disorders
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NGS Parkinson
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NGS Pancreatic cancer – HCS panel
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NGS Pontocerebellar hypoplasia PCH
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NGS Primary immunodeficiency PID
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NGS Osteopetrosis and dense bone dysplasia
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NGS Prostate cancer – HCS panel
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NGS Renal cell carcinoma
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NGS Retinitis pigmentosa
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NGS Colorectal cancer panel polyposis
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NGS Skeletal Dysplasia
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NGS Muscle disorders
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NGS Sudden cardiac death
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NGS Primary ciliary dyskinesia PCD
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NGS Stickler syndrome and related disorders
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NGS Vision disorder Albinism
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NGS Vision disorder CSNB
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NGS Segmental overgrowth and Vascular malformations (somatic)
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NGS White matter disease
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ABCA3 Analysis
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ABCA4 Analysis
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ABCB11 Analysis
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ABCB4 Analysis
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ABCC2 Analysis
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UPD
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ABCC6 Analysis
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ABCC8 Analysis
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ACVR1 Analysis
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ADA2 Analysis
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ADAR Analysis
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AIMP1 Analysis
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ANG Analysis
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ANGPT1 Analysis
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APP Analysis
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ASPM Analysis
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ATP8B1 Analysis
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AUTS2 Analysis
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BMPR2 Analysis
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BRIP1 Analysis