Endocrinology

Timely detection and diagnosis of hormone-related diseases can significantly improve prognosis. Through our extensive rare disease-centric Bio/Databank, we can provide you with a comprehensive and accurate analysis of genetic variants associated with hormone-related diseases. Our medical reports include treatment recommendations and a differential diagnosis, if applicable – allowing for genetic counseling and informed treatment decisions.

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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 with this panel.

No. of genes: 265
TAT: 25 days
Coverage: ≥99.0% ≥20x
Details: CNV analysis included MLPA: 15q11

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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. It can also be used for differential diagnosis, as it includes genes associated with pancreatic cancer.

No. of genes: 29
TAT: 25 days
Coverage: ≥99.0% ≥20x
Details: CNV analysis included

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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: 12
TAT: 25 days
Coverage: ≥99.0% ≥20x
Details: CNV analysis included
CYPA21A2 analysis

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COMMON SYNDROMES AND DISORDERS COVERED
  • Congenital adrenal hyperplasia

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