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Endocrinology
Timely detection and diagnosis of hormone-related diseases can significantly improve prognosis. With our extensive data repository of rare diseases, we can provide you with a comprehensive medical report, including recommendations and a differential diagnosis, if applicable – allowing for genetic counseling and treatment decisions.
Diabetes and obesity panel
Our diabetes and obesity panel is recommended for patients with abnormalities in glucose metabolism, such as hyperinsulinemic hypoglicemia, diabetes neonatal, MODY, diabetes in adults, and familial hypercholesterolemia as well as for patients displaying insulin resistance, from mild to the severe spectrum (Donohue syndrome), and for patients with familial hyperinsulinism. Disorders caused by imprinting errors or uniparental disomy such as 6q24-related transient neonatal diabetes mellitus and Beckwith Wiedemann syndrome are not detected wtih this panel.
| No. of genes: | 196 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV analysis included |
COMMON SYNDROMES AND DISORDERS COVERED
Bardet-Biedl syndrome
Congenital glycosylation disease
Congenital hyperinsulinism
Familial hypercholesterolemia
Hypoglycemia
Maturity onset diabetes of the young
Neonatal diabetes
Obesity
Pancreatitis panel
Our pancreatitis panel includes genes associated with chronic pancreatitis and for differential diagnosis, it includes genes associated with pancreatic cancer.
| No. of genes: | 29 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV analysis included |
COMMON SYNDROMES AND DISORDERS COVERED
Pancreatic cancer
Pancreatitis
Congenital adrenal hyperplasia panel
Our congenital adrenal hyperplasia (CAH) panel is designed for patients suspected of having CAH. CAH is a group of inherited disorders characterized by improper functioning of the adrenal glands, leading to abnormal production of steroid hormones, such as a cortisol or aldosterone. Our panel includes the analysis of the CYP21A2 gene, which codes for the enzyme 21-hydroxylase. More than 90% of CAH cases are caused by a deficiency of this enzyme.
| No. of genes: | 8 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | CNV analysis included CYPA21A2 analysis |