<h2><span style="color: #800080;">List of cardiovascular diseases included in the panel</span></h2>
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<td style="width: 6.2766%; height: 18px;">1</td>
<td style="width: 87.3786%; height: 18px;" width="447">Andersen-Tawil syndrome&nbsp;</td>
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<td style="width: 6.2766%; height: 18px;">2</td>
<td style="width: 87.3786%; height: 18px;">Arrhythmogenic right ventricular cardiomyopathy 5, 8, 10, 11, and 12</td>
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<td style="width: 6.2766%; height: 18px;">3</td>
<td style="width: 87.3786%;" width="447">Arterial Tortuosity Syndrome&nbsp;</td>
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<td style="width: 6.2766%; height: 18px;">4</td>
<td style="width: 87.3786%;">Axenfeld-Rieger syndrome, type 3</td>
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<td style="width: 6.2766%; height: 18px;">5</td>
<td style="width: 87.3786%;">Brugada Syndrome&nbsp;</td>
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<td style="width: 6.2766%; height: 18px;">6</td>
<td style="width: 87.3786%;">Cardiofaciocutaneous syndrome&nbsp;</td>
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<td style="width: 6.2766%; height: 18px;">7</td>
<td style="width: 87.3786%;">Catecholaminergic polymorphic ventricular tachycardia, 1 e 2</td>
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<td style="width: 6.2766%; height: 22px;">8</td>
<td style="width: 87.3786%;" width="447">Danon disease</td>
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<td style="width: 6.2766%; height: 18px;">9</td>
<td style="width: 87.3786%;">Dilated Cardiomyopathy 1X</td>
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<td style="width: 6.2766%; height: 18px;">10</td>
<td style="width: 87.3786%;">Fabry disease</td>
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<td style="width: 6.2766%; height: 18px;">11</td>
<td style="width: 87.3786%;">Familial Hypercholesterolemia</td>
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<td style="width: 6.2766%; height: 18px;">12</td>
<td style="width: 87.3786%;" width="447">Familial hypobetalipoproteinemia&nbsp;</td>
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<td style="width: 6.2766%; height: 18px;">13</td>
<td style="width: 87.3786%;">Familial thoracic aortic aneurysms and dissections (FTAAD)</td>
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<td style="width: 6.2766%; height: 18px;">14</td>
<td style="width: 87.3786%;" width="447">Holt-Oram syndrome</td>
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<td style="width: 6.2766%; height: 18px;">15</td>
<td style="width: 87.3786%;">Hyperphenylalaninemia, BH4-deficient</td>
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<td style="width: 6.2766%; height: 18px;">16</td>
<td style="width: 87.3786%;">Jervell and Lange-Nielsen syndrome</td>
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<td style="width: 6.2766%; height: 18px;">17</td>
<td style="width: 87.3786%;" width="447">Kabuki syndrome 1</td>
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<td style="width: 6.2766%; height: 18px;">18</td>
<td style="width: 87.3786%; height: 18px;">Long QT syndrome 1, 2, 3 and 14</td>
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<td style="width: 6.2766%; height: 18px;">19</td>
<td style="width: 87.3786%;" width="447">Noonan syndrome 4, 5 and 6</td>
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<td style="width: 6.2766%; height: 18px;">20</td>
<td style="width: 87.3786%;">Supravalvar aortic stenosis&nbsp;</td>
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<h2><span style="color: #800080;"><img style="display: block; margin-left: auto; margin-right: auto;" src="https://cms.baby.dnafiles.health/storage/uploads/2020/03/27/5e7e318e3ade2cardiology2x.svg" alt="" width="42" height="56" /></span></h2>
<h2><span style="color: #800080;">Criteria for selecion of the diseases and genes</span></h2>
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<h4><strong><span style="color: #333399;">Definitive gene-disease association</span></strong></h4>
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<td style="width: 100%; height: 18px;">Well-stablished scientific and clinical evidences showing that mutations in the gene X result in the disease Y.<br /><br /></td>
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<h4><strong><span style="color: #333399;">Diseases with paediatric onset</span></strong></h4>
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<td style="width: 100%; height: 18px;">All diseases of the DNA.files BABY panel have an onset up to 18 years old. Diseases with adult onset are not analysed.<br /><br /></td>
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<h4><strong><span style="color: #333399;">Genes with &gt;80% </span></strong><strong><span style="color: #333399;">penetrance</span></strong></h4>
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<td style="width: 100%; height: 18px;">We only search for gene mutations whose probability of developing the related disease is 4 out of 5 carrier children.<br /><br /></td>
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<h4><strong><span style="color: #333399;">Diseases highly actionable during infancy</span></strong></h4>
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<td style="width: 100%; height: 18px;">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.<br /><br /></td>
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<p>&nbsp;</p>

Cardiovascular diseases

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

cardiovascular-diseases-2

cardiology@2x.svg

cardiology.svg

Cardiology

Diseases affecting the heart or blood vessels.

cardiology

dermatology@2x.svg

dermatology.svg

Dermatology

Diseases affecting the skin and mucous membranes.

dermatology

endocrinology@2x.svg

gastroenterology.svg

Endocrinology

endocrinology

gastroenterology@2x.svg

Gastroenterology

Diseases impairing the organs of the digestive system.

gastroenterology

color (3).svg

hematology.svg

Hematology

Diseases affecting the blood and blood-forming organs.

hematology

Immunology@2x.svg

Immunology.svg

Immunology

Diseases impairing immune system function.

immunology

color (5).svg

metabolic.svg

Metabolics

metabolics

metabolic@2x.svg

Multisystemic

multisystemic

urology@2x.svg

urology.svg

Nephrology

Diseases affecting normal renal function.

nephrology

neurology@2x.svg

neurology.svg

Neurology

Diseases affecting the brain, spinal cord and nerves.

neurology

Oncology@2x.svg

Oncology.svg

Oncology

Medical speciality dealing with tumors and cancer.

oncology

Ophtalmology@2x.svg

Ophtalmology.svg

Ophtalmology

Diseases impairing the normal function of the eyes.

ophtalmology

orthopedics@2x.svg

orthopedics.svg

Orthopaedics

Diseases affecting the musculoskeletal system.

orthopaedics

otology@2x.svg

otology.svg

Otolaryngology

Diseases impairing the ears, nose and throat function.

otolaryngology

Pneumology@2x.svg

Pneumology.svg

Pneumology

Diseases affecting the respiratory system.

pneumology

Explore the different clinical areas and learn more about some of the analysed diseases.

Screening for over 300 childhood diseases.

Explore the clinical areas and learn more about the screened diseases.

Screening for over 300 childhood diseases.

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