Genetics Laboratories

The Genetics Laboratoratory at the Imogen Centre provides genetic testing services and pre and postnatal diagnostic for patients and also for research projects in the field of pre- and postnatal medicine. The laboratory comprises cytogenetics, molecular genetics and research and development and is dedicated to bringing into the clinical arena the most current and specialized methods of genetic testing through state-of-the-art techniques (microarray technology, next-generation sequencing, QF-PCR , FISH, Karyotyping through G bands).

Q.F.-P.C.R. (Analysis of chromosomes 13, 18, 21, X and Y)

  • is indicated for pregnant women with modified double-triple test results or if the woman is aged 35 years or older. QF – PCR detects the most common abnormalities (Down syndrome, Edwards syndrome, Patau syndrome, Turner syndrome, Kinefelter syndrome and triploidies).

 

 

 

 

 

 

G-band staining

  • is a chromosome-staining technique used in human cytogenetics to identify individual chromosomes, which produces characteristic bands. It utilizes acetic acid fixation air drying, denaturing chromosomes mildly with proteolytic enzymes, salt heat, detergents or urea and finally Giemsa stain.

The collective term “microarray

  • describes a state-of-the-art technology in molecular biology which allows high-throughput and highly parallel analyses of up to several thousand points of interest (e.g. genes, mRNA, proteins). With some platforms, up to several hundred thousands of parallel measures using nanogram amounts of sample material can be produced in one experiment.

Next generation sequencing (NGS)

  • is often referred to as massively parallel sequencing, which means that millions of small fragments of DNA can be sequenced at the same time, creating a massive pool of data. This pool of data can reach gigabites in size, which is the equivalent of 1 billion (1,000,000,000) base pairs of DNA. In comparison, previous methods could sequence one DNA fragment at a time, perhaps generating 500 to 1000 base pairs of DNA in a single reaction.

FISH (fluorescence in situ hybridisation)

  • is a laboratory technique used to visualise where a particular gene or DNA sequence is located within a person’s genome. This enables clinical scientist to check for specific chromosomal alterations which may cause a genetic condition. FISH can be carried out on dividing (metaphase) cells where individual chromosomes can be distinguished or on non-dividing (interphase) cells. This makes it quicker to get results than other techniques such as karyotyping. FISH uses a fluorescently labelled hybridisation probe which will attach to the exact part of the DNA which the scientist wants to visualise. The hybridisation probe is a short fragment of DNA that has a fluorescent dye attached. A typical FISH probe would be 10 – 100 kb (thousand base pairs of DNA) long.