Endocrinology
Diagnostic test based on NGS of multiple genes associated to a disease, condition, or phenotype.
Panels
Monogenic and Syndromic Obesity Precision Panel – 81 genes
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.
Hyperlipidemia Precision Panel – 30 genes
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.
MODY and Neonatal Diabetes Precision Panel – 15 genes
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.
Disorders of Sex Development Precision Panel – 70 genes
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.
Hereditary Pancreatitis Precision Panel – 7 genes
Pancreatitis is a condition that occurs when the pancreas becomes inflamed leading to a state of systemic inflammation.
Congenital Adrenal Hyperplasia Precision Panel – 13 genes
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.
Maturity Onset Diabetes of the Young and Neonatal Diabetes Precision Panel – 43 genes
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.
Short Stature Precision Panel – 118 genes
Short stature is the common term applied to a child whose height is 2 standard deviations or more below the mean for children of that sex and age. Although short stature can be a variant of normal growth, it can also be caused by a disease.
