Downloads

Single gene diagnostics

Request form for single gene diagnostics
Download 1 MB

Patient Information

Primary Sampling Manual
Download 306 KB

Panel diagnostics

Request form for Exome/Trio-Exome
Download 616 KB
Request form for Intellectual disability
Download 863 KB
Request form for epilepsy
Download 767 KB
Request form for hypertension
Download 712 KB
Request form for lipodystrophy
Download 717 KB
Request form for Marfan syndrome, EDS & other connective tissue diseases
Download 735 KB
Request form for neuroendocrine tumours
Download 709 KB
Request form for neuromuscular diseases
Download 868 KB
Request form for kidney diseases
Download 1 MB
Request form for Noonan syndrome and hypertrophic cardiomyopathy
Download 1,005 KB
Request form for paediatric lung diseases
Download 694 KB
Request form for prenatal skeletal abnormalities
Download 782 KB
Request form for skeletal diseases and unclear skeletal phenotypes
Download 877 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 segregation analysis
Download 479 KB

Certificates

Accreditation document DakkS
Download 328 KB
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