Genetic Tests

• Indirect Coombs (The indirect Coombs reaction determines whether a patient has developed certain circulating antibodies that act against irregular antigens, such as anti-D. Testing should be performed during prenatal care, blood donors, suspected immune hemolysis, transfusion reactions, determination of Kell, Duffy, Kidd blood group antigens, during transplants)
• Direct Coombs (DCT is also known as the direct antiglobulin test. The monospecific Coombs test facilitates the differential diagnosis of acquired immune hemolytic anemia. This test is also used in reactions that occur against immunoglobulins or the complement system, such as against IgG, -IgA, -IgM, C3, C3d, or C4, due to specific autoimmune antibodies.)
• HLAB27 (B*2701-2759) is the protein encoded by the B locus in the major histocompatibility complex MHC I of chromosome 6 and “presents” antigenic peptides to T cells. This haplotype is closely associated with several inflammatory diseases such as ankylosing spondylitis, rheumatoid arthritis, autoimmune diseases, and eye inflammation.
• HLA status (cross-match) Testing identifies the HLA genes and antigens you have inherited and detects antibodies to HLA antigens that would cause transplant failure; testing can also be done to identify HLA antigen types in platelet blood donors that match transfusion recipients.

• 21-hydroxylase deficiency (21-hydroxylase deficiency is an inherited disorder affecting the adrenal glands. The CYP21A2 gene codes for the 21-hydroxylase protein, which acts as an enzyme in the production of cortisol and aldosterone hormones.)

• p450c17-hydroxylase abs (PCOS or Polycystic Ovary Syndrome is an endocrine disease that affects an average of 5-20% of women of reproductive age. Polycystic ovary syndrome (PCOS) is a syndrome in which the ovaries produce an abnormal amount of androgens (male sex hormones), which are usually present in women in small amounts)
• p450scc-hydroxylase (Cytochrome P450scc (P450 side-chain cleavage) is a mitochondrial enzyme linked to the conversion of cholesterol to pregnenolone. The presence of this enzyme determines whether a cell is steroidogenic. Mutations result in a deficiency of steroid hormones, causing congenital lipoid adrenal hyperplasia, which is a rare and potentially fatal condition. The presence of antibodies to P450scc is associated with gonadal failure (primary hypogonadism) and Addison’s disease with polyglandular syndrome (PAS) in females.)
• p450c21-hydroxylase (Cytochrome P450c21-hydroxylase deficiency is an autosomal recessive disorder caused by the absence of one of the enzymes necessary for cortisol synthesis in the adrenal glands. Autoantibodies against P450c21-hydroxylase are detected in autoimmune polyglandular diseases (APD), which are specific for all steroid-producing cells as specific adrenal enzymes.)

Premature ovarian failure (POF) Primary ovarian insufficiency occurs when the ovaries stop functioning properly before the age of 40. This condition causes the ovaries to not produce the proper amount of estrogen hormone or release eggs regularly. Primary ovarian insufficiency is often confused with premature menopause, but these two are not the same condition.

• JAK2 Mutations (Janus kinase 2 (JAK2) is a protein encoded by the JAK2 gene and participates in the regulation of cell proliferation (division and growth). JAK2 participates in the JAK/STAT signaling pathway through which chemical signals are transmitted from outside the cell to its nucleus. Somatic mutations occurring in the JAK2 gene are associated with myeloproliferative disorders (MPD) such as polycythemia vera, essential thrombocythemia, primary myelofibrosis, etc., known as types of blood cancer.)
• Mutation in exon 12 of the JAK2 gene (The most common mutation in the JAK2 gene is in exon 12, a point mutation named V617F where a single nucleotide change translates into a single amino acid change from valine to phenylalanine at position 617 of the protein.)

• HLA DQ2/DQ8 mutation testing is performed when a patient suspects the presence of celiac disease. Celiac disease is an autoimmune disorder in which gluten consumption can cause gastrointestinal symptoms and small intestine damage. The genetic predisposition to celiac disease involves HLA class II genes that encode MHC II heterodimeric molecules; dedicated to the presentation of antigenic peptides to CD4+ cells. MHC II heterodimers, specifically HLA-DQ2 and HLA-DQ8, consist of alpha and beta chains, encoded respectively by the HLA DQA1∗05–DQB1∗02 (DQ2) and DQA1∗03–DQB1∗03:02 (DQ8) genes.

• Genefood – Provides valuable information to prevent or delay the onset of food-related diseases, and also to establish a correct diet based on human metabolism, which is unique. It is useful for establishing a healthy and adapted diet and can play an important role in preventing hereditary diseases such as diabetes and hypercholesterolemia, as well as very common intolerances like gluten and lactose. )

• Lactose intolerance (Lactose intolerance is the inability to digest certain amounts of lactose, the main sugar found in milk. Symptoms may include diarrhea, gas, and bloating after eating or drinking dairy products. Lactase breaks down milk into two simple sugar forms: glucose and galactose, which are absorbed into the blood. The method used for this test includes Real-time PCR; detection of the -13910C>T polymorphism of LCT.)

• Fructose intolerance (Lack of proteins or enzymes needed to break down fructose. This type of fructose intolerance occurs when an enzyme called aldolase B is not functioning. This enzyme is located in the liver and helps convert fructose into usable energy.) The method used for this test includes ALDOB gene sequencing and MLPA analysis to detect deletions/duplications of this gene.

• Peripheral Karyotype (The karyotype of peripheral blood lymphocytes can identify numerical and structural chromosomal abnormalities of all chromosomes.)
• Inherited Thrombophilia Tests (Genes that determine inherited thrombophilia are considered genes that must interact with external environmental factors for the disease to manifest (pregnancy, oral contraception, surgery, vitamin treatments, etc.). The genes most often considered are those related to Factor V Leiden, coagulation Factor II (prothrombin), and the MTHFR gene (methylenetetrahydrofolate reductase).)
• Cystic fibrosis is an inherited disorder that causes serious damage to the lungs, digestive system, and other organs. Cystic fibrosis affects the cells that produce mucus, sweat, and digestive fluids. Instead of these fluids acting as lubricants, the secretions become thick and sticky, blocking ducts and tubes, especially those in the lungs and pancreas.
• Y Chromosome Microdeletions (It is a test that serves to identify any microdeletion in the Y chromosome region, which is responsible for regulating spermatogenesis.)
• Carrier test (for identifying the inheritance of recessive diseases) (This information, in case of planning a future pregnancy, can be useful to avoid the hypothesis of a child with autosomal recessive diseases, X-linked and chromosomal abnormalities.)