At LIFE CODE, we apply the most reliable diagnostic tests for the genetic investigation of infertility and the detection of hereditary genetic disorders.
Infertility affects approximately 15% of couples attempting to conceive. Scientific research has shown that genetic abnormalities are responsible for infertility in around 15% of men and 10% of women, involving both numerical and structural chromosomal anomalies as well as single-gene mutations.
In recent years, significant progress has been made in the development and implementation of reliable genetic diagnostic tools. These tests not only help identify the underlying genetic causes of infertility but also play a critical role in the prevention of hereditary disease transmission to future offspring.
Tests for Male Infertility
Peripheral Blood Karyotype: Study of chromosomes for numerical or structural abnormalities that may lead to recurrent miscarriages or infertility.
Molecular Detection of Y Chromosome Microdeletions: Absence of regions of the Y chromosome carrying genes necessary for proper sperm production. These deletions can lead to azoospermia, oligozoospermia, or oligo-astheno-teratozoospermia. Observed in 8–10% of infertile men with these characteristics.
Molecular Detection of Cystic Fibrosis (CFTR):. Men with obstructive azoospermia may carry mutations in the CFTR gene associated with cystic fibrosis.
Molecular Cytogenetic Analysis (FISH) for Sperm Aneuploidy: Study of numerical chromosomal abnormalities in chromosomes 13, 16, 18, 21, 22, X, Y. High rates of aneuploidy in sperm can lead to abnormal embryos and, consequently, miscarriages.
Sperm Apoptosis / Fragmentation Analysis: Apoptosis is the programmed cell death of a cell. In men with normal sperm count but poor fertilization, it can reach up to 70%, often resulting in embryos that fail to develop after fertilization or develop very slowly.
Molecular Analysis of Human Leukocyte Antigens (HLA): Conducted in cases of recurrent miscarriages.
Tests for Female Infertility
Peripheral Blood Karyotype: Study of chromosomes for numerical or structural abnormalities that may lead to recurrent miscarriages or infertility.
Molecular Test for Fragile X Syndrome (FRAXA)
Molecular Thrombophilia Testing
Molecular HLA Analysis: Conducted in cases of recurrent miscarriages.
Molecular Microbiological Tests for:
Mycoplasma spp., Ureaplasma spp., Chlamydia trachomatis
Molecular Virology Tests for:
Herpesviruses (e.g., HSV-1, HSV-2, CMV, EBV, VZV)
Rubella virus, Parvovirus B19, and other clinically relevant viruses
Investigation of Recurrent Miscarriages