Genetic testing for

Pneumology

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Pneumology

Pneumological diseases have a high genetic heterogeneity with truly overlapping phenotypes. That is why genetic testing is the most efficient way of obtaining a differential diagnosis of pulmonary diseases, essential in order to select the most appropriate treatment for the patient. What’s more, genetic diagnosis is a powerful tool in evaluating the risk to relatives of the patient in suffering from the same disease.

Risk evaluation allows preventative treatment to be started, as well as changes in lifestyle and family planning. What’s more, it enables health professionals to intensify their routine medical controls.

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

Our NGS panels for pneumology include genes clinically associated with various pulmonary 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.

Download information

NGS Diagnostic Catalogue

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    We have optimized all our processes to accept a wide range of samples, always adapting to each case.

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