Methods of Analysis

For a reliable genetic diagnosis

Methods of analysis

We use the most advanced technologies

At Reference Laboratory Genetics our goal is innovation and quality, carrying out all our genetic studies with the most advanced technology. Our aim is to offer reliable, up-to-date genetic tests of clinical utility in alignment with the highest standards of quality, which are always at the cutting edge of the diagnostic field.

Among all the methods of analysis that we carry out on our facilities, those that stand out are: NGS, Sanger, MLPA, PCR, aCGH, FISH, and cytogenetics, to name but a few.

If you’re interested in finding out whether we carry out other methods of analysis, you can contact us at


NGS sequencing (Next generation sequencing or mass sequencing) is based on the specific selection of different fragments of DNA which are sequenced in parallel and on a large scale, making the cost effectiveness of the whole process more efficient. Included in this type of sequencing are the following – NGS panels, clinical exoma, whole exoma sequencing, (WES) and whole genome sequencing.

The NGS data that we obtain with our optimised processes comply with the highest standards of quality with an average coverage of 100x and 98% of the target at >20X. Subsequently via our bioinformatics pipeline and RefLab Database®, our team of clinical analysts obtain, analyse and interpret the different genetic variants.

Molecular karyotype (aCGH)

We offer our clients two platfroms of molecular karyotype for constitutional and prenatal diagnosis: Agilent technologies and Affymetrix.

In order to characterise the advantages and/or losses of DNA with the highest level of certainty and reliability, we use the aCGH of International Standards for Cytogenomic Arrays Consortium (ISCA). These designs are constantly updated to be able to offer results that incorporate the most recent scientific and clinical advances.

Fluorescence in situ hybridization (FISH)

At Reference Laboratory Genetics we have over 20 years’ experience analysing a wide range of samples using FISH. Among the different samples we study, we can find oncohematological samples, paraffin fabrics, sperm samples, amniotic liquid or peripherally blood for constitutional studies.

In order to carry out studies using FISH we use updated probes complying with the most recent recommendations. Subsequently our analysts interpret the results and write up the reports in the most detailed possible way.

Fragment analysis

This technology allows us to study various pathologies at a highly reduced cost and time limit, and with the added advantage that they are easy to interpret.

We use fragment analysis techniques that allow us to detect the presence or absence of certain fragments or markers (analysis of STRs), alterations in the number of copies (CNVs) of a gene or concrete genomic copies (MLPA), and expansions of concrete sequences, for example nucleotide triplets, and the determination of their approximate size (TP-PCR).

Sanger sequencing

This technology is extremely robust, with an analytical sensibility of >99%, which allows us to determine the nucleotide sequencing of the concrete area of a gene with great accuracy.

Thanks to this method, in a fast and clear way we are able to identify the presence of pathogenic or non-pathogenic variants, whether they are new or inherited, in a determined gene. It also permits us to compare various sequences with each other, detect complex mutations such as small deletions or duplications, and also to carry out expression studies thanks to the possibility of being able to directly study the cDNA and the mitochondrial DNA.

Real-time PCR

Unlike conventional PCR, Real-time PCR allows us to carry out the detection and quantification of the PCR products in one simple step, making electrophoresis unnecessary and significantly reducing response time.

Thanks to the design of our optimised probes we can determine with high reliability whether or not the sample shows heterozygosis or homozygous mutations.


The Southern Blot analysis is especially useful for the analysis of repetitive sequences, like those which appear in samples from patients affected by fragile X chromosome syndrome. As well as carrying out this complete blood test, we also carry out the study using amniotic liquid in order to study antenatal cases.

Conventional karyotype

Conventional karyotype allows us to detect numeric and structural anomalies in the chromosomic endowment of an individual, which is especially useful when detecting genetic alterations of a foetus, finding out if a chromosomal defect is causing infertility to a couple, or to diagnose certain types of cancer, among other things. When carrying out conventional karyotype, our team carries out a microscopic study to detect large rearrangements or changes in the genome of the analysed samples. In order to do this, cell cultures from certain samples are prepared and once the cells are in metaphase they go on to be analysed under a microscope. Subsequently the results are shown in the result report, always validated by our cytogenetic experts.

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