Genetic testing for

Endocrinology

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Endocrinology

Hormones influence growth and development, digestion, excretion, respiration, blood circulation and maintenance of body temperature, sexual function and reproduction. If the hormone levels are too high or low, or if the organism does not respond to the hormones as it should it could be possible that the patient has a hormonal dysfunction or illness of the endocrine system.

A large number of illnesses of the endocrine system are related to a genetic predisposition or are hereditary. Genetic testing is the most efficient way to obtain a differential diagnosis among endocrine illnesses, 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 of the patient in suffering from the same illness. 

Risk evaluation allows helps start preventative treatment, changes in lifestyle, or help with family planning. What’s more, it helps health professionals to intensify their routine medical controls. 

At Reference Laboratory Genetics we have a wide range of specialist endocrine system tests available, enabling us to offer the most adequate test to each patient: from screening to diagnosis, including prevention and prognosis.

Our NGS endocrine panels include genes clinically associated with various illnesses of the endocrine system.

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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    Explore our Endocrinology panels



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    ZINSSER-COLE-ENGMAN SYNDROME
    ZIMMERMANN-LABAND SYNDROME , NEXT-GENERATION SEQUENCING (NGS) ATP6V1B2 AND KCNH1 GENES

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