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- Cardiology
The identification of the genetic cause of cardiovascular disease is essential for a correct diagnosis that allows the most appropriate therapeutic approach to be chosen. In addition, obtaining a genetic diagnosis can help to prevent complications and improve the patient's prognosis and allows the risk of family members to be assessed, enabling lifestyle changes and preventive treatments to be initiated, as well as helping to carry out correct family planning.
All genes included in each of our targeted exomes are clinically highly relevant and have been selected from information contained in reference databases such as OMIM, HGMD, ClinVar and HPO, and in the most recent scientific literature.
DESCRIPTION
Targeted exome that includes 244 genes associated or potentially associated with the development of inherited cardiovascular diseases. Indicated in complex cases without a clinically determined diagnosis.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Cardiomyopathies are diseases of the heart muscle in which the myocardium is weakened, dilated or has another structural problem that affects its ability to pump blood properly, potentially leading to heart failure. We provide a general panel that includes the analysis of the genes associated with the most frequent types of cardiomyopathy (hypertrophic, dilated, arrhythmogenic, restrictive and non-compaction) or the specific study of each of them.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Channelopathies are genetic diseases of the heart's ion channels, which control the electrical activity of the heart, and can therefore cause alterations in heart rhythm, increasing the risk of arrhythmias and sudden death in the patient. We study the genes associated with the most common channelopathies such as long QT syndrome, Brugada syndrome and Catecholaminergic Polymorphic Ventricular Polymorphic Tachycardia, among other related pathologies.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Rasopathies refer to a group of syndromes whose genetic cause lies in the alteration of the Ras/MAPK cell signalling pathway. Clinical manifestations include heart defects in more than 50% of patients. The study includes the analysis of genes associated with Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome and Legius syndrome among other rasopathies.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Aortopathies are a group of diseases of genetic cause associated with the predisposition or development of aneurysms, dissections and rupture of the aorta or other vessels of the arterial system. We include the study of connective tissue pathologies, such as Marfan, Ehlers-Danlos, Loeys-Dietz and Shprintzen-Goldberg syndromes, and thoracic aortic aneurysms and familial aortic dissections (TAAD).
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Pulmonary hypertension is a rare disease defined by an abnormal increase in pulmonary blood pressure secondary to thickening of the walls of the pulmonary arteries. This condition requires the heart to work harder to force blood through these narrowed pulmonary arteries, resulting in symptoms of heart failure. This study includes the analysis of the BMPR2 and EIF2AK4 genes among others associated with the pathology.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Hypercholesterolemia refers to high blood cholesterol levels as it is associated with an increased risk of cardiovascular disease at an early age. Due to its polygenic origin we offer the study of 12 genes associated with hypercholesterolemia including familial hypercholesterolemia.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Congenital heart diseases are a group of diseases characterised by the presence of structural alterations of the heart caused by defects in its formation during the embryonic period. The vast majority of congenital heart diseases have a multifactorial aetiology, although it is estimated that 8-10% of the cases are due to a chromosomal anomaly, and 3-5% are associated with a monogenic syndrome. We include the study of 130 genes associated with syndromic and non-syndromic congenital heart disease.
CHARACTERISTICS
- Delivery time: 35-45 days
Other services
DESCRIPTION
We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases.
DESCRIPTION
We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.
DESCRIPTION
We use the MLPA technique (Multiplex Ligation-dependent
Probe Amplification) for the identification of deletions/duplications or methylation alterations in a
methylation alterations in a specific gene or region.
- EDTA blood (1x 5 ml)
- Saliva (specific Isohelix kit)
- Buccal exudate (2x sterile isopes)
- Isolated DNA (>30 ng/μl in >100 μl)
Remember to label each sample with the patient's first and last name or with the identifier used on the request form.
Home » Cardiology
DESCRIPTION
Targeted exome that includes 244 genes associated or potentially associated with the development of inherited cardiovascular diseases. Indicated in complex cases without a clinically determined diagnosis.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Cardiomyopathies are diseases of the heart muscle in which the myocardium is weakened, dilated or has another structural problem that affects its ability to pump blood properly, potentially leading to heart failure. We provide a general panel that includes the analysis of the genes associated with the most frequent types of cardiomyopathy (hypertrophic, dilated, arrhythmogenic, restrictive and non-compaction) or the specific study of each of them.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Channelopathies are genetic diseases of the heart's ion channels, which control the electrical activity of the heart, and can therefore cause alterations in heart rhythm, increasing the risk of arrhythmias and sudden death in the patient. We study the genes associated with the most common channelopathies such as long QT syndrome, Brugada syndrome and Catecholaminergic Polymorphic Ventricular Polymorphic Tachycardia, among other related pathologies.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Rasopathies refer to a group of syndromes whose genetic cause lies in the alteration of the Ras/MAPK cell signalling pathway. Clinical manifestations include heart defects in more than 50% of patients. The study includes the analysis of genes associated with Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome and Legius syndrome among other rasopathies.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Aortopathies are a group of diseases of genetic cause associated with the predisposition or development of aneurysms, dissections and rupture of the aorta or other vessels of the arterial system. We include the study of connective tissue pathologies, such as Marfan, Ehlers-Danlos, Loeys-Dietz and Shprintzen-Goldberg syndromes, and thoracic aortic aneurysms and familial aortic dissections (TAAD).
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Pulmonary hypertension is a rare disease defined by an abnormal increase in pulmonary blood pressure secondary to thickening of the walls of the pulmonary arteries. This condition requires the heart to work harder to force blood through these narrowed pulmonary arteries, resulting in symptoms of heart failure. This study includes the analysis of the BMPR2 and EIF2AK4 genes among others associated with the pathology.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Hypercholesterolemia refers to high blood cholesterol levels as it is associated with an increased risk of cardiovascular disease at an early age. Due to its polygenic origin we offer the study of 12 genes associated with hypercholesterolemia including familial hypercholesterolemia.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Congenital heart diseases are a group of diseases characterised by the presence of structural alterations of the heart caused by defects in its formation during the embryonic period. The vast majority of congenital heart diseases have a multifactorial aetiology, although it is estimated that 8-10% of the cases are due to a chromosomal anomaly, and 3-5% are associated with a monogenic syndrome. We include the study of 130 genes associated with syndromic and non-syndromic congenital heart disease.
CHARACTERISTICS
- Delivery time: 35-45 days
Other services
DESCRIPTION
We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases.
DESCRIPTION
We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.
DESCRIPTION
We use the MLPA technique (Multiplex Ligation-dependent
Probe Amplification) for the identification of deletions/duplications or methylation alterations in a
methylation alterations in a specific gene or region.
- Cardiology
DESCRIPTION
Targeted exome that includes 244 genes associated or potentially associated with the development of inherited cardiovascular diseases. Indicated in complex cases without a clinically determined diagnosis.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Cardiomyopathies are diseases of the heart muscle in which the myocardium is weakened, dilated or has another structural problem that affects its ability to pump blood properly, potentially leading to heart failure. We provide a general panel that includes the analysis of the genes associated with the most frequent types of cardiomyopathy (hypertrophic, dilated, arrhythmogenic, restrictive and non-compaction) or the specific study of each of them.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Channelopathies are genetic diseases of the heart's ion channels, which control the electrical activity of the heart, and can therefore cause alterations in heart rhythm, increasing the risk of arrhythmias and sudden death in the patient. We study the genes associated with the most common channelopathies such as long QT syndrome, Brugada syndrome and Catecholaminergic Polymorphic Ventricular Polymorphic Tachycardia, among other related pathologies.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Rasopathies refer to a group of syndromes whose genetic cause lies in the alteration of the Ras/MAPK cell signalling pathway. Clinical manifestations include heart defects in more than 50% of patients. The study includes the analysis of genes associated with Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome and Legius syndrome among other rasopathies.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Aortopathies are a group of diseases of genetic cause associated with the predisposition or development of aneurysms, dissections and rupture of the aorta or other vessels of the arterial system. We include the study of connective tissue pathologies, such as Marfan, Ehlers-Danlos, Loeys-Dietz and Shprintzen-Goldberg syndromes, and thoracic aortic aneurysms and familial aortic dissections (TAAD).
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Pulmonary hypertension is a rare disease defined by an abnormal increase in pulmonary blood pressure secondary to thickening of the walls of the pulmonary arteries. This condition requires the heart to work harder to force blood through these narrowed pulmonary arteries, resulting in symptoms of heart failure. This study includes the analysis of the BMPR2 and EIF2AK4 genes among others associated with the pathology.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Hypercholesterolemia refers to high blood cholesterol levels as it is associated with an increased risk of cardiovascular disease at an early age. Due to its polygenic origin we offer the study of 12 genes associated with hypercholesterolemia including familial hypercholesterolemia.
CHARACTERISTICS
- Delivery time: 35-45 days
DESCRIPTION
Congenital heart diseases are a group of diseases characterised by the presence of structural alterations of the heart caused by defects in its formation during the embryonic period. The vast majority of congenital heart diseases have a multifactorial aetiology, although it is estimated that 8-10% of the cases are due to a chromosomal anomaly, and 3-5% are associated with a monogenic syndrome. We include the study of 130 genes associated with syndromic and non-syndromic congenital heart disease.
CHARACTERISTICS
- Delivery time: 35-45 days
Other services
DESCRIPTION
We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases.
DESCRIPTION
We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.
DESCRIPTION
We use the MLPA technique (Multiplex Ligation-dependent
Probe Amplification) for the identification of deletions/duplications or methylation alterations in a
methylation alterations in a specific gene or region.