Downloads

Single gene diagnostics

Request form for single gene diagnostics
Download 1 MB

Panel diagnostics

Request form for Intellectual disability
Download 863 KB
Request form for epilepsy
Download 767 KB
Request form for hypertension
Download 727 KB
Request form for lipodystrophy
Download 725 KB
Request form for Marfan syndrome, EDS & other connective tissue diseases
Download 758 KB
Request form for neuroendocrine tumours
Download 727 KB
Request form for neuromuscular diseases
Download 941 KB
Request form for kidney diseases
Download 1 MB
Request form for Noonan syndrome and hypertrophic cardiomyopathy
Download 785 KB
Request form for paediatric lung diseases
Download 707 KB
Request form for prenatal skeletal abnormalities
Download 879 KB
Request form for skeletal diseases and unclear skeletal phenotypes
Download 879 KB
Request form for Bardet-Biedl syndrome, Jeune syndrome, Joubert syndrome, Meckel-Gruber syndrome
Download 1 MB
Request form for Coffin-Siris syndrome, dystroglycanopathies, epileptic encephalopathy
Download 863 KB

Array CGH diagnostics

Request form for array CGH diagnostics
Download 846 KB

Other request forms

Request form for a consultation
Download 483 KB
Request form for segregation analysis
Download 479 KB
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