COAGULATION TESTS

• Blood chemistry tests: Hemochrome, Fibrinogen, PT, PTT, platelets.

• Factor II (Prothrombins): activation of prothrombin in thrombin leads to clot formation: There is a genetic variant associated to high levels of prothrombin in plasma which increase the risk of thrombosis.

• Factor V Leiden: essential cofactor for prothrombin activation. Activated Protein C inhibits its clotting effect by cleaving and degrading Factor V. A mutation of the gene that codes for Factor V prevents effective inactivation.

• MTHFR (677C/T and 1298A/C mutations)): methylenetetrahydrofolate reductase: enzyme involved in the remethylation of homocysteine to methionine, using vitamin B12. Rare mutations can cause severe deficiency of MTHFR with consequent homocysteinemia and homocystinuria and low plasma levels of folic acid. This leads to a delay in the psycho-motor development and massive thrombotic phenomena. High levels of homocysteine in blood are a risk factor for vascular diseases. Moreover, when lack of dietary folic acid occurs, the thermolabile variant of MTHFR significantly reduces plasma folic acid levels and it is thus a risk factor for neural tube defect in pregnant women.

FERTILITY TESTS FOR COUPLES

For Both:
• Blood chemistry tests: estradiol, FSH, LH, progesterone, prolactin, testosterone, ßHCG.

• Cystic Fibrosis (29 main mutations)): It usually appears in the first years of life. It is a hereditary autosomal recessive disease, caused by DNA mutations in the gene that codes for the protein CFTR (Cystic Fibrosis Transmembrane Regulator) localized on chromosome 7. Genes are inherited in couples, one from the mother and the other from the father. People affected by the disorder have both mutated genes, while immune carriers have only one copy of the mutation. DNA tests aimed at searching mutations in the cystic fibrosis gene are the only way to identify immune carriers.
The CFTR protein has a fundamental role in regulating the quantity of chloride secreted together with biological fluids. In patients with Cystic Fibrosis, CFTR protein does not work or is missing. Secretions of exocrine glands are thus denser and more viscous than normal, with severe problems affecting mainly lungs, the digestive system and fertility.

• Chlamydia Trachomatis

• Kariotyping from peripheral blood

For men:
• Y chromosome microdeletions (AZF): responsible for spermiogenesis defects. A region controlling spermiogenesis that codes for the human azoospermia factor-AZF has been mapped to Y chromosome long arm.

• Spermiogram: : determines the number and motility of spermatozoons.

• Spermioculture

WOMENS’ HEALTH

• Blood chemistry analysis: Ca 125, Ca 19.9, ßHCG

• PAP-Test

• Papillomavirus (HPV): screening

• Papillomavirus (HPV): genotyping (29 types).

Il Human PapillomaVirus (HPV) infects multilayered squamous cell epithelium, inducing the synthesis and production of virus particles inside permissive cells, whose activity is linked to the degree of differentiation of the host cell.

About one hundred different types of HPV, have been identified, among these, over 35 cause infection of the ano-genital tract (condylomes) while 20 are associated with the genital carcinoma. The presence of these sequences can be demonstrated in over 90% of invasive squamous cell carcinoma of the cervix, in condylomes and often in cervical intraepithelial neoplasia.

HPV-induced lesions may be either benign or malignant and HPV types are thus divided into two groups:

•low-risk: HPV 6, 11, 40, 42, 43, 44, 54, 61, 70, 72, 81

•high-risk: HPV 16, 18, 26, 31, 33, 35, 39, 45, 51, 52, 53, 56, 58, 59, 66, 68, 73, 82.

The Pap Test is best method for an early detection of cervical cancer,