Molecular Biology

 

One of the distinguishing feature of the Molecular Biology department is the well-structured diversity of services, which offer diagnostic solutions for all kind of clinical requirement to patients and their doctors, enabling them to find an answer for most emerging needs.

Over the past decade, DNA analysis has established itself a clinical and a diagnostic investigative method for an ever-increasing number of genetic diseases. Techniques from molecular biology have proven decisive, especially in the field of mono-factorial disorders.

The laboratory makes use of the latest and most sophisticated automated equipment. Indeed, Toma has always had a careful focus on advanced technologies (whether those on the market or developed on site). This has enabled us to reach high quality, both in the pre-analytical and post-analytical process stages.

To identify specific genetic alterations, a preferred strategy of analysis is currently  being represented, which is the best offered modern technology: the automated sequential analysis for genetic regions affected by mutations. This has been replaced by traditional screening methods, because of their inferior precision and liability to interpretative error, which are certainly quicker, but are now becoming outdated.

VIRAL SECTION
TOXOPLASMA GONDII
CITOMEGALOVIRUS
EPSTEIN BARR VIRUS
HERPES SIMPLEX 1 AND 2
PARVOVIRUS B19
VARICELLA ZOSTER
HCV RNA (QUALITATIVE, QUANTITATIVE AND GENOTYPE ANALYSES)
HBV (QUALITATIVE AND QUANTITATIVE ANALYSES)
PAPILLOMA VIRUS
RUBELLA
CHLAMYDIA TRACHOMATIS
NEISSERIA GONORRHOEAE

MEDICAL GENETICS SECTION
SPINAL MUSCULAR ATROPHY TYPES 1, 2 AND 3
SCREENING FOR MICRODELETION OF CHROMOSOME Y (AZF)
SCREEENING FOR SRY GENE
CHROMOSOME 15 MYTHELATION TEST (PRADER WILLI/ANGELMAN)
EXCLUSION OF UNIPARENTAL DISOMY
CYSTIC FIBROSIS (1st 2nd AND 3rd LEVEL)
BETA THALASSEMIA
QF PCR FOR CHROMOSOMES 13, 18, 21, X AND Y
LEIDEN FACTOR V
FACTOR II
MTHFR
PAI 1 GENE
MOLECULAR ANALYSIS FOR ACE
MOLECULAR ANALYSIS FOR APOLIPOPROTEIN E (APOE)
MOLECULAR ANALYSIS FOR FACTOR XIII
MOLECULAR ANALYSIS FOR PLATELET GLYCOPROTEIN IIIA (GPIIIA)
MOLECULAR ANALYSIS FOR ANGIOTENSIN II RECEPTOR (ATR-1)
MOLECULAR ANALYSIS FOR BETA FIBRINOGEN (FBG)
MOLECULAR ANALYSIS FOR BETA CYSTATHIONINE BETA SYNTHESIS (CBS)
HAEMOCROMATOSIS
CHARCOT MARIE TOOTH TYPE 1A
MOLECULAR TEST FOR COELIAC DISEASE
MOLECULAR ANALYSIS FOR SICKLE-CELL ANEMIA
FRAX-A
HLAB27 TYPING
HbC MOLECULAR ANALYSIS
JAK2 – V617F QUALITATIVE TEST
MOLECULAR ANALYSIS FOR LACTOSE INTOLLERANCE

ONCOLOGICAL GENETICS SECTION
FAMILIAR BREAST/OVARIAN CANCER (BRCA1/2)
LYNCH SYNDROME (GENES MLH1, MSH2, MSH6)
FAMILIAL ADENOMATOUS POLYPOSIS (APC, MUTYH)

FORENSIC GENETICS SECTION
PRE- AND POST-NATAL PATERNITY ANALYSIS

PHARMACO-GENETICS SECTION
GENOTYPES ASSOCIATED WITH COUMADIN THERAPIES
PHARMACO-GENETICS CLOPIDOGREL/PRASUGREL
PHARMACO-GENETICS OF STATINS
PHARMACO-GENETICS FOR ACETYLSALICYLIC ACID (ASA)
PHARMACO-GENETICS PMA (FSHR, ESR1, ESR2)
PHARMACO-GENETICS FSH (FSHR, FSHB)
PHARMACO-GENETICS HLA-G

SEMENOLOGY SECTION
SPERMIOGRAM
CAPACITATION TEST

GENOME SCREENING FOR INFECTIVE AGENTS

With the constant development over the past years of new therapeutic methodologies, the need has been felt for rapid and sure diagnosis of infections in humans, enabling quick intervention to attack the infective agent and to adapt pharmacological action in an unhurried, controlled way.

This is where prenatal molecular diagnosis techniques (RT-PCR and PCR) come in. Through these, it is possible to highlight the presence of genomes of micro-organisms that are damaging to the foetus.

Analyses conducted:
TOXOPLASMA GONDII
CYTOMEGALOVIRUS
EPSTEIN BARR VIRUS
HERPES SIMPLEX 1 AND 2
PARVOVIRUS B19
VARICELLA ZOSTER
RUBELLA

ONCOLOGICAL GENETICS

Although most tumours are sporadic in character, there are forms of cancer that show a higher probability of recurrence within families.

The application of molecular biology techniques to the diagnosis of neoplastic diseases has proven its efficacy over recent years. Molecular diagnostic techniques play a crucial role in cancer diagnosis as they can identify individuals in whom a cancer may develop before any symptoms appear, and therefore help to individuate the disease at an early stage.

The genetic predisposition test is aimed at people lonked to families within which, over generations, individuals have suffered neoplastic disease. At present, this ability to identify a person at risk of developing a tumour represents the best method of attaining an early diagnosis of a tumour, thereby reducing mortality from this disease.

Members of families at high hereditary risk, and in particular individuals who have been directly affected by cancer, may request a genetic consultancy meeting with the geneticist to discuss their clinical and genetic situation.

Information obtained from a genetic test may offer considerable benefits, such as:

  • Identification of family members who are at high risk of developing a tumour;
  • Organisation of an adequate programme of medical monitoring for individuals at high risk, so that diagnosis of the tumour at an early stage is facilitated;
  • Awareness of the possibility of transferring predispositions to genetic mutations to one’s offspring.

Analyses conducted:
HEREDITARY BREAST/OVARIAN CANCER (BRCA1/2)
LYNCH SYNDROME (GENES MLH1, MSH2, MSH6)
FAMILIAL ADENOMATOUS POLYPOSIS (APC, MUTYH)

MOLECULAR GENETICS

Genetic diseases are caused by alterations in the sequences of one or more genes. There is a growing conviction among researchers in the field of genetic disease that, apart from trauma-related and infective conditions, it is hard to conceive of a disease that is without a genetic component.

Preventative genetic tests for the presence of risk factors are available for a considerable number of diseases caused by the mutation of a single gene (monogenetic diseases).

Analyses conducted:
SPINAL MUSCULAR ATROPHY TYPES 1,2 AND 3
SCREENING FOR MICRODELETION OF CHROMOSOME Y (AZF)
METHYLATION TEST FOR CHROMOSOME 15 (PRADER WILLI/ANGELMAN)
CYSTIC FIBROSIS (1st 2nd AND 3rd LEVEL)
BETA THALASSEMIA
LEIDEN FACTOR V
FACTOR II
MTHFR
PAI1 GENE
MOLECULAR ANALYSIS FOR ACE
MOLECULAR ANALYSIS FOR APOLIPOPROTEIN E (APOE)
MOLECULAR ANALYSIS FOR FACTOR XIII
MOLECULAR ANALYSIS FOR PLATELET GLYCOPROTEIN IIIA (GPIIIA)
MOLECULAR ANALYSIS FOR ANGIOTENSIN II RECEPTOR (ATR-1)
MOLECULAR ANALYSIS FOR BETA FIBRINOGEN (FBG)
MOLECULAR ANALYSIS FOR BETA CYSTATHIONINE BETA SYNTHESIS (CBS)
HAEMOCHROMATOSIS
CHARCOT MARIE TOOTH TYPE 1A
MOLECULAR TEST FOR COELIAC DISEASE
MOLECULAR ANALYSIS FOR SICKLE-CELL ANEMIA
FRAX-A
HbC MOLECULAR ANALYSIS
JAK2 – V617F QUALITATIVE TEST
MOLECULAR ANALYSIS FOR LACTOSE INTOLLERANCE

PATERNITY TESTS

A paternity test is a DNA analysis that establishes the most complex consanguinity ties with a high degree of accuracy. It thus helps settle controversies over paternity and issues around inheritance rights.

Paternity tests help ascertain whether a supposed father is in fact the biological father of a child.

The test is based on the principle that every individual inherits their genetic endowment from their parents: 50% from the father and 50% from the mother. It consists in comparing the genetic characteristics of the child with those of the supposed father and with those of the mother. To be considered the biological father, the supposed father should possess half of the genetic profile present in the child.

A DNA examination to evaluate biological paternity is conducted using the most advanced genetic identification systems to guarantee the highest level of accuracy and reliability of the results.

© 2020 TOMA Advanced Biomedical - Credits