Genica Genetics of Endocrine Diseases and Syndromes
Endocrinology

Genetics of Endocrine Diseases and Syndromes

Timely detection and diagnosis of hormonal diseases can significantly improve the prognosis and course of the disease. The genomic revolution, characterized by an increase in the number of available genetic tests and known genetic associations, has led to improved medical literacy among clinicians.

In endocrinology, the principles of genetic testing are applied, as hormonal disorders are due to defects in basic cellular functions. Genetic tests in modern endocrine practice allow for the prevention and diagnosis of endocrine genetic disorders or multisystem genetic disorders with endocrine manifestations.

Genetic Testing for Congenital Enzyme Defects in Steroid Hormone Biosynthesis

Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is the result of a deficiency in one of the enzymes in cortisol biosynthesis. In about 95% of cases of congenital adrenal hyperplasia, the disorder is in the area of the adrenal cortex fasciculata, so that 17-hydroxyprogesterone (17-OHP) is not converted to 11-deoxycortisol. ACNT levels increase due to defective cortisol synthesis, leading to overproduction and accumulation of cortisol precursors, particularly 17-OHP. As a result, excessive androgen production occurs leading to virilization.

Diagnostic Range: Genetic variants in the genes: CYP21A2

Diagnostic Method: Sanger sequencing / MLPA

Research Material: 6 ml venous blood / 2 ml peripheral blood

Results within: 10 business days

Fee: Sanger - BGN 1,200 / MLPA - BGN 800

Clinical application

 Adrenogenital syndrome 

DNA Testing for Predisposition to Diabetes

Type 2 Diabetes

Advances in genetics in recent years have found polymorphisms in the genome which, in combination with different genotypes, could provide information on a predisposition to developing type 2 diabetes.

Diagnostic Range: Genetic variants in the genes TCF7L2, FTO are analyzed

Diagnostic Method: Sanger sequencing/ RFLP

Research Material: 6 ml venous blood / 2 ml peripheral blood

Results within: 5 business days

Fee: BGN 200

Clinical application

 Type 2 Diabetes 

Enzyme Testing

IDO Activity

Indolamine-2,3-dioxygenase is an enzyme that metabolizes the amino acid tryptophan (TRP) and kynurenine. It occurs in a number of tissues and cells, such as the small intestine, lungs, female genital tract or placenta.

IDO is an important part of the immune system and plays a role in the natural defense against various pathogens. It is produced by cells in response to inflammation and has an immunosuppressive function due to its ability to limit T cell function and to involve mechanisms of immune tolerance. IDO activity is low under normal physiological conditions, but is dramatically increased by the presence of proinflammatory cytokines such as interferon-γ. This short-term activation of IDO occurs as part of the innate immune response and helps inhibit the growth of pathogens and parasites.

Diagnostic Range: Quantification of Indolamine-2,3-Dioxygen activity; Tryptophan; Kynurenine

Diagnostic Method: ELISA

Research Material: 2 ml of serum

Results within: 15-20 business days

Fee: BGN 168

Clinical application

Arthritis; Alzheimer's; Atherosclerosis; Osteoporosis; Diabetes; Crohn's disease; Ulcerative colitis

Genetic Panel

Premature Ovarian Failure

Premature ovarian failure (POF)— also called Primary ovarian insufficiency (POI) - occurs when the ovaries stop functioning normally before age 40. POF is one of the main causes of infertility in women. In 1-2% of them, POF is observed before the age of 40 and about 0.1% before the age of 30.

POF can be appear very early as a defect in puberty. Depending on the age of occurrence the disorders can manifest as primary amenorrhea (PA), without a first menstrual cycle (menarche) or secondary amenorrhea after puberty. The etiology of POF is highly heterogeneous with 12% of cases being chromosomal abnormalities. Family history is very common.

Diagnostic Range: NR5A1, BMP15, FMR1, FSHR, GNRHR, NOBOX и FIGLA

Diagnostic Method: Sanger sequencing

Research Material: 3-6 ml венозна кръв / 2 ml периферна кръв

Results within: 5 business days

Fee: BGN 100 - BGN 220 - expansion in FMR1; BGN 250 - BGN 650 - variants in the FSHR gene; BGN 300 - variants in the BMP15 gene

Clinical application

Premature ovarian failure; Genetic predisposition; Reproductive failures

Impaired Vitamin B6 Absorption

Vitamin B6

Vitamin B6 is an important factor in the formation of the red blood cells, the developing of nervous tissue, the detoxification processes, the DNA synthesis, the cell energy balance and the immune protection. It is also a key factor in the methylation processes that regulate the "unlocking" or "locking" of our genes. Methylation disorders can lead to elevated homocysteine levels, which are associated with a large number of diseases.

Vitamin B6 Genetic Panel includes analysis of genetic variants associated with faster degradation of vitamin B6 and systemically low bioavailability of its active form, called Pyridoxal-5-phosphate. The results contain interpretation, clinical significance of identified variants and recommendations to assist specialists in making therapeutic decisions.

Diagnostic Range: Genetic variants associated with deficiency and faster degradation of Vitamin B6

Diagnostic Method: Sanger sequencing

Research Material: 3-6 ml venous blood / 2 ml peripheral blood

Results within: 10 business days

Fee: BGN 150

Clinical application

Metabolic disorders; Eating disorders

Predisposition to Vitamin B12 Deficiency

Vitamin B12

Vitamin B12 is supplied only with food. It is a key factor in to the functioning of vital body processes, including the formation of red blood cells, DNA synthesis, normal nervous system function, digestion. If Vitamin B12 deficiency is not managed in time, it can lead to anemia, a number of gastrointestinal, neurological, oncological, and other diseases.

Vitamin B12 Genetic Panel includes analysis of genetic variants associated with disorders in the absorption of the vitamin in the small intestine, reduced transport to the liver and faster depletion of its active form.

The results contain interpretation, clinical significance of identified variants and recommendations to assist specialists in making therapeutic decisions.

Diagnostic Range: Absorption, transport and use of vitamin B12 in the body.

Diagnostic Method: Sanger sequencing/ RFLP

Research Material: 3-6 ml venous blood / 2 ml peripheral blood

Results within: 10 business days

Fee: BGN 280

Clinical application

Neurology; Hematology; Endocrinology; Gastroenterology; Psychiatry Anemia