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Genomics Precision Diagnostic > Endocrinology

Endocrinology

Diagnostic test based on NGS of multiple genes associated to a disease, condition, or phenotype.

Panels

Monogenic and Syndromic Obesity Precision Panel

The heritability of obesity is estimated between 40-70%, but the genetics of obesity for most individuals is complex and involves the interaction of multiple genes with the environment.

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Hyperlipidemia Precision Panel

Hyperlipidemia is a set of metabolic disorders that can be genetic or acquired that are characterized by excess lipids in the blood which can include cholesterol and/or triglycerides.

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MODY and Neonatal Diabetes Precision Panel

Maturity-onset diabetes of the young (MODY)  and Neonatal Diabetes Mellitus are a heterogeneous group of inherited monogenic and polygenic disorders that are present during adolescence or young adulthood and affect an individual’s blood sugar level due to beta cell dysfunction. 

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Disorders of Sex Development Precision Panel

Disorders of Sex Development (DSD), formerly termed intersex conditions, occur when there is a discrepancy between the appearance of the genitalia and the genetic makeup of an individual.

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Hereditary Pancreatitis Precision Panel

Pancreatitis is a condition that occurs when the pancreas becomes inflamed leading to a state of systemic inflammation.

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Congenital Adrenal Hyperplasia Precision Panel

Congenital Adrenal Hyperplasia (CAH) is a group of diseases that are associated with variants or mutations in the genes that are involved in hormone production.

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