|2||Arrhythmogenic right ventricular cardiomyopathy 5, 8, 10, 11, and 12|
|3||Arterial Tortuosity Syndrome|
|4||Axenfeld-Rieger syndrome, type 3|
|7||Catecholaminergic polymorphic ventricular tachycardia, 1 e 2|
|9||Dilated Cardiomyopathy 1X|
|13||Familial thoracic aortic aneurysms and dissections (FTAAD)|
|16||Jervell and Lange-Nielsen syndrome|
|17||Kabuki syndrome 1|
|18||Long QT syndrome 1, 2, 3 and 14|
|19||Noonan syndrome 4, 5 and 6|
|20||Supravalvar aortic stenosis|
Definitive gene-disease association
|Well-stablished scientific and clinical evidences showing that mutations in the gene X result in the disease Y.
Diseases with paediatric onset
|All diseases of the DNA.files BABY panel have an onset up to 18 years old. Diseases with adult onset are not analysed.
Genes with >80% penetrance
|We only search for gene mutations whose probability of developing the related disease is 4 out of 5 carrier children.
Diseases highly actionable during infancy
|If a disease-causing mutation is detected, the development of the related disease may be prevented or mitigated by applying timely and effective clinical interventions, such as, through the adoption of specific habits, pharmacological treatment, or periodic clinical monitoring.
Medicine is changing! In the future, medicine will no longer be focused on responding to disease, but rather on preventing it.