Molecular biology is a branch of biology that studies living beings at the level of the molecular mechanisms underlying their physiology, focusing in particular on the interactions between macromolecules, i.e. proteins and nucleic acids (DNA and RNA).

Molecular biology uses techniques that allow the detection, analysis, manipulation, amplification (PCR) and copying (cloning) of nucleic acids, thus allowing to diagnose

l he presence of infectious agents and mutations in genes associated with pathological conditions.

 

 

List of Molecular Genetics analyzes

 

• Y Chromosome Microdeletion (Y-Chromosome Fever)

• Genomic Typing of HLA classes A, B, C, and DRB1; DQB1; HLA B27

• Genetic Testing: HLA DQ2-DQ8 Haplotype (Celiac Disease)

• Sperm DNA Fragmentation Test (TUNEL test)

• FISH for Sperm Aneuploidy

• Natural Killer Lymphocytes (CD3-/CD56+CD16+) LGL- Plasma Cells (CD3-/CD56+CD16+)

• Cystic Fibrosis (76 mutation panel)

• Alpha and Beta Thalassemia

• Uniparental Disomy

• EndomeTRIO: Combination of ERA + EMMA + ALICE tests

• Male Carrier Screening (CGT+) Screening of 519 genes associated with 570 diseases + 20,000 variants.

• Test to identify whether the patient or patient couple carries mutations that could be inherited by their offspring.

• NIPT (Fetal DNA Testing)

• Sry AGT M235T gene screening

• Thrombophilia Panel: Screening for 15 ACE-specific mutations (Ins/Del),APOB R3500Q, APOE (E2; E3; E4), F13A1 V34L, F2 Prothrombin G20210A,F5 Cambridge R306T, F5 H1299R, F5 Leiden G1691A/R506Q, F5 Y1702C,FGB -455 G>A, ITGB3/HPA, MTHFR A1298C, MTHFR C677T, PAI-1

• Fragile X

 

 

List of Molecular Infectivology analyzes  

 

During pregnancy, some maternal viral infections can be transmitted to the fetus and in a number, fortunately a minimum of cases, cause pathological effects in the unborn child.

The research of the infectious agent on cells and amniotic fluid with molecular technique (PCR) allows to evaluate its transmission to the fetus.

The prenatal infectious disease analyzes:

 

• Research Toxoplasma Gondii

• Cytomegalovirus research

• Search Rubella Virus

• Parvovirus B19 research

• Search Epstein Bar Virus

• Herpes simplex virus research

• Research Hepatitis C virus

 

 

Paternity Investigations

 

The recognition of paternity is now possible with absolute certainty through comparative analysis of characteristic DNA sequences between the child and the presumed father.

Paternity is 100% excluded in the case of genetic discrepancy and attributed in the case of absolute compatibility.

The test can be performed on: blood, mouth swab, hair.