Molecular genetics

The analysis of the structure and organisation of DNA is a crucial investigative method in the clinical and diagnostic field for an increasing number of genetic disorders and diseases.  The application of molecular genetics spans several areas, including prenatal and postnatal investigations, oncogenetics (which identifies hereditary cancer mutations), and the assessment of intolerances and predisposition to coeliac disease.

Thrombophilia

Hereditary thrombophilias (genetic predisposition to thrombosis) are a group of diseases characterised by thrombotic episodes. In most cases, the pathology depends on defects or alterations of one or more genes involved in blood clotting. 

Today, it is possible to detect mutations and polymorphisms in genes coding for clotting factors, which can be a risk factor for the development of thrombosis.

Search for mutations of 3 genes/polymorphisms
Factor II Prothrombin
Factor V Leiden
MTHFR C677T

Search for mutations of 6 genes/polymorphisms
Factor V Leiden
Factor V H
Factor V Y
Factor II
MTHFR C677T
MTHFR A1298C

Search for mutations of 14 genes/polymorphisms
Factor II
F5 H1299R
F5 Leiden
MTHFR A1298C
MTHFR C677T
PAI-1
GPIIIa
ACEApo E
AGT
ATR-1
FGB -455 G>A
Factor XIII
CBS

Cystic Fibrosis

Cystic Fibrosis (CF) is a systemic, chronic and progressive disease that affects various organs, including the lungs, pancreas, liver and intestines. It is an inherited condition that affects approximately 1 in every 2,500–2,700 newborns. In patients with Cystic Fibrosis (CF), the secretions from the exocrine glands—such as mucus, sweat, saliva, semen and gastric juices—are much thicker and more viscous than normal.
The most serious issues occur in the lungs, where this dense mucus can lead to respiratory problems and infections.
Cystic Fibrosis is caused by mutations in the gene that encodes the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein and is inherited in an autosomal recessive manner.

  • Search for 88 mutations for Cystic Fibrosis
  • Complete sequencing of the CFTR gene

Lactose intolerance

The lactose intolerance test on a genetic basis, analyses the LCT gene, which is essential in the first years of life. The LCT gene codes for lactase,
an enzyme present in the small intestine that breaks down lactose into simple sugars and therefore allows it to be absorbed. Lactose intolerance presents with a range of symptoms, from the most common ones, like abdominal pain and distension, flatulence, and diarrhoea, to a variety of others, such as nausea, vomiting, headache, lack of concentration, acute fatigue, and muscle and joint pain, etc.

  • LCT A-22018G
    LCT T-13910C

Predisposition to Coeliac disease

Caeliac disease is a chronic inflammatory bowel disease triggered by gluten ingestion.
The introduction of gluten into the diet triggers an immune reaction that causes inflammation of the intestinal mucosa,  compromising the absorption of nutrients present in foods. Among the various symptoms, diarrhoea, bloating, abdominal pain and intestinal malabsorption may occur in adults.

HLA DQ2/DQ8 genes

Caffeine intolerance

Caffeine sensitivity is related to the body’s efficiency in metabolising caffeine.
Some of the symptoms of caffeine sensitivity include migraine, anxiety, lack of sleep, palpitations, tremors, dehydration and increased
heart rate. In patients with reduced production of the protein responsible for caffeine metabolism, encoded by the CYP1A2 gene, the liver metabolises it slowly.
The test for caffeine intolerance allows us to identify three types of subjects:

  • subjects with normal sensitivity, where the effects depend on the level of intake;
  • subjects with low sensitivity, who metabolise caffeine quickly due to high CYP1A2 gene activity;
  • hypersensitive subjects suffer from the effects of caffeine, due to the low activity of the CYP1A2 gene.

Male infertility caused by microdeletions of the Y chromosome

Microdeletions of the Y chromosome in the region called AZF, in turn divided into three subregions called A, B, and C, represent one of the most frequent causes of male infertility resulting from azoospermia or oligospermia.
The test detects the presence or absence of 6 specific genetic markers constituting a unique sequence in the genome.

AZF, SRY (Sex determining Region-Y)

Karyotype

The karyotype is a test performed on chromosomes obtained by stimulating the mitosis of lymphocytes. It helps to identify abnormalities in the number and structure of chromosomes, such as translocations, deletions and inversions.
This examination is very useful in diagnosing genetic disorders and diseases, as well as highlighting certain congenital defects and disorders of the blood and lymphatic system. The karyotype examination requires experienced doctors and biologists with high professional skills for both conducting the test and interpreting the results.
It can be performed upon the request of a specialist, such as a gynaecologist, endocrinologist, paediatrician, medical geneticist or urologist.

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