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Cardiology
Cardiology
Dermatology
Dermatology
Endocrinology
Endocrinology
Gastroenterology
Gastroenterology
Hematology
Hematology
Cardiovascular diseases
Cardiology
Cardiology

Cardiovascular diseases

Screening for 20 cardiovascular diseases caused by mutations in 37 genes.

List of cardiovascular diseases included in the panel

1 Andersen-Tawil syndrome 
2 Arrhythmogenic right ventricular cardiomyopathy 5, 8, 10, 11, and 12
3 Arterial Tortuosity Syndrome 
4 Axenfeld-Rieger syndrome, type 3
5 Brugada Syndrome 
6 Cardiofaciocutaneous syndrome 
7 Catecholaminergic polymorphic ventricular tachycardia, 1 e 2
8 Danon disease
9 Dilated Cardiomyopathy 1X
10 Fabry disease
11 Familial Hypercholesterolemia
12 Familial hypobetalipoproteinemia 
13 Familial thoracic aortic aneurysms and dissections (FTAAD)
14 Holt-Oram syndrome
15 Hyperphenylalaninemia, BH4-deficient
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 

Criteria for selecion of the diseases and genes

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.


 

The Power of Genomic Medicine.

Medicine is changing! In the future, medicine will no longer be focused on responding to disease, but rather on preventing it.

Detection
Detection
of disease-causing genetic mutations at early stages, before the first symptoms appear.
Prevention
Prevention
of disease development, with a proactive and timely approach.
Personalisation
Personalisation
of clinical decisions, interventions and treatments. Focus on the individual and how to optimise well-being.
Participation
Participation
and empowerment of individuals by the rigor of genetic information, becoming them better prepared to make decisions about their health management.

Know to prevent.

Because your baby’s healthcare starts from the first moment.