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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, also known as lepreuchanism), and for patients with familial hyperinsulinism. Disorders such as transient neonatal diabetes mellitus 6q24 related or Beckwith Wiedemann syndrome are not detectable by this method. Specific genetic disorders are caused by imprinting errors and uniparental disomy, and they can not be detected by sequence analysis.
| No. of genes: | 155 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
| Details: | MLPA: 15q11 |
COMMON SYNDROMES AND DISORDERS COVERED
Bardet-Biedl syndrome
Congenital hyperinsulinism
Diabetes neonatal
Familial hypercholesterolemia
Hypoglycemia
Maturity onset diabetes of the young
Neonatal diabetes
Obesity
Pancreatitis panel
Our pancreatitis panel includes genes associated with chronic pancreatitis. For differential diagnosis, we have included genes associated with Pancreatic cancer.
| No. of genes: | 29 |
| TAT: | 25 days |
| Coverage: | ≥99.5% ≥20x |
COMMON SYNDROMES AND DISORDERS COVERED
Pancreatic cancer
Congenital adrenal hyperplasia panel
Our congenital adrenal hyperplasia panel (CAH) 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: | CYPA21A2 analysis |