Genetic testing for

Cardiology

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Cardiology

Cardiovascular diseases (CVDs) are the main cause of death worldwide. In western countries they represent  30% of all deaths, surpassing mortality caused by other diseases such as cancer (28%) or respiratory diseases (RD 11%). 80% of mortality can be avoided with prevention: an increase in routine controls of high risk patients, changes in lifestyle habits or preventative medicine. Unfortunately, CVDs are a very heterogeneous group of diseases which can show overlapping phenotypes making it difficult to come to a differential conclusive diagnosis.

Genetic studies are the most efficient way to obtain a differential diagnosis among cardiac diseases, essential in selecting the most appropriate treatment for the patient. What’s more, genetic diagnosis is a powerful tool in evaluating the risk to relatives in suffering from the same illness as the patient.

Risk evaluation allows preventative treatment to be carried out and helps with changes in lifestyle and with family planning. What’s more, it shows that the health professionals are able to intensify the routine medical controls.

At Reference Laboratory Genetics we have a wide range of specialised cardiology tests, enabling us to offer the most appropriate test to each individual patient: from screening to diagnosis, including prevention and prognosis.

Our NGS cardiology panels include genes clinically associated with different cardiac diseases.

Continually updated panels using HPO in order to include the most recent association published between phenotype and genotype.

Lower number of VOUS thanks to our database Reflab Database®, and main genetic variants and specific to illness databases.

The best turnaround times (< 30 days).

Pre and postanalysis support with our experts in clinical genetics.

Conclusive, transparent and customizable clinical reports.

Maximum diagnostic yield and clinical utility.

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NGS Diagnostic Catalogue

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    ZINSSER-COLE-ENGMAN SYNDROME
    ZIMMERMANN-LABAND SYNDROME , NEXT-GENERATION SEQUENCING (NGS) ATP6V1B2 AND KCNH1 GENES
    ZELLWEGER SYNDROME TYPE 5A , SEQUENCING PEX2 GENE
    ZELLWEGER SYNDROME TYPE 8A , SEQUENCING PEX16 GENE
    ZELLWEGER SYNDROME TYPE 6A , SEQUENCING PEX10 GENE
    ZINC DEFICIENCY IN BREAST MILK , SEQUENCING SLC30A2 GENE

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