Frequently Asked Questions (FAQs)

You will find the answers to the most frequently asked questions about CITOGEN’s services in this section, along with everything related to our company. We trust that this space will help you gain a better understanding of the company’s operation and methodology.

General Questions

Forensic Genetics

What is the difference between an informative/anonymous paternity or other kinship test and one that is legally valid?

In the case of informative or anonymous tests, there is no need to identify the participants. Any kind of sample can be used to obtain DNA. It is not necessary to take the samples in a laboratory and you can even send the samples to the laboratory from home quickly and easily. Due to this, they are merely informative and are not valid for use in the courts. Nevertheless, if you so prefer, you can request the samples to be taken at the nearest laboratory to your home (in the case of minors, the sample cannot be taken without their legal guardian’s authorisation).

 

On the other hand, samples for legally valid tests must undoubtedly be taken by professionals who can vouch for the identity of the test’s participants. That is the reason why the sampling can only be done at collaborating centres where the samples’ chain of custody and be ensured.

Which documents must I submit in order to take a paternity or other legally valid kinship tests?

In order to prove the identity of the people involved through a legally valid test, they must provide the following documents:

 

  1. A publicly recognised valid ID document (national ID card, passport, alien’s residence card).
  2. Recent photograph in the case of minors.
  3. Authorisation of the minor’s legal guardian to take the sample, which is to be document by means of a family record book or birth certificate (in the case of minors).

In addition, the laboratory which takes the samples (collaborating centre or Citogen) must fill out an APPLICATION that collects all the data about the participants. This application consists of:

  • Informed consent where the characteristics of these tests are explained. The person(s) requesting the test much grant their authorisation to these tests being carried out by signing it.
  • Family members’ data and pathological history of interest that may influence the test results’ assessment (recent blood transfusions, transplants, etc.).
  • Delivery of reports. It is essential to indicate and sign the box which specifies to whom the report is to be sent.
  • Information on the Centre and payment method.
  • Custody chain: Identification and signature of the person who takes the samples and data related thereof.
What is a genetic profile?

Human DNA is not the same in all people. There are variable or polymorphic zones that allow individuals to be differentiated and biologically identified. Each human being therefore has a unique “genetic profile” or “genetic fingerprint”, with the exception of monozygotic twins whose genetic profile is identical.

 

In Forensic Genetics, the variable DNA regions most commonly used to carry out these studies are the so-called STR (Short Tandem Repeats), which are very frequent and are located along the entire genome.

 

What is a paternity or maternity test?

These tests are based on comparing the genetic profile of the two people involved in the test (for instance, son/daughter and their presumed father) to subsequently carry out a statistical analysis that reveals the likelihood of kinship.

When is a maternity test usually done?

The most frequent cases in which a maternity test is usually requested are the following:

  • To confirm an adopted child’s biological mother
  • To prove kinship to Civil Registries for the purpose of reunifying immigrant families
  • To confirm that an embryo conceived through in-vitro fertilisation was implanted into the correct mother’s womb
  • To resolve situations where the mother or hospital staff suspect that there has been a mix-up of babies in the baby unit
Can kinship tests be conducted involving relatives who are not parents and children?

Yes, it is possible to conduct studies on other kinship relationships, such as: sibling, grandfather/grandmother-grandchildren, uncle/aunt-nephew/niece relationships, etc. These kind of tests are very useful in cases where paternity/maternity needs to be determined and the DNA of the alleged parent is not available because he or she has died or is missing.

 

If it is suspected that two people may be paternally or maternally related, what studies can be conducted?

Paternal lineage studies (Y chromosome)

Studying Y chromosome’s genetic profile is highly useful to establish or rule out paternal lineage relationships between individuals because said chromosome is transmitted from fathers to sons. Thus, two male individuals who have an identical Y chromosomes have an ascending male kindship relationship. In the contrary, if their Y chromosomes are different, this kind of relationship can be ruled out.

 

Maternal lineage studies (mitochondrial DNA)

In the case of mitochondrial DNA, it is only transmitted by mothers to their children, but cannot be transmitted by fathers. Studying the genetic profile of mitochondrial DNA can therefore be used to establish or rule out maternal lineage relationships. In cases where it is suspected that two people may be related through the maternal line, it can be concluded that this kind of relationship exists if the mitochondrial DNA of both is identical. On the contrary, such a relationship can be ruled out if it is different.

Can a paternity test be conducted before the baby is born?

Yes, this is a prenatal paternity test. If you wish to verify the future baby’s prenatal paternity and their alleged father during pregnancy, there are two options:

Amniotic fluid prenatal paternity test (invasive)

The test is conducted using an amniotic fluid or chorionic villus sample obtained by a gynaecologist in the weeks set forth for this kind of procedures. A blood sample of the presumed father and a sample of the mother’s blood are likewise necessary.

Maternal blood paternity test (non-invasive)

The test requires a simple analysis of the mother’s blood. During the pregnancy, foetal DNA circulates through the mother’s blood, which can be extracted and analysed for genetic profiling in order to compare it with that of the presumed father. The sample can be taken as from the 8th week of gestation and it also allows the baby’s sex to be known.

What is a Family Reunification?

Yes, this is a prenatal paternity test. If you wish to verify the future baby’s father-child relationship and their presumed father during pregnancy, there are two options:

Amniotic fluid paternity test (invasive)

 

The test is conducted using an amniotic fluid or chorionic villus sample that has been obtained by a gynaecologist in the weeks set forth for this kind of procedures. A blood sample of the presumed father and a sample of the mother’s blood are likewise necessary.

 

Maternal blood paternity test (non-invasive)

 

The test requires a simple analysis of the mother’s blood. During the pregnancy, foetal DNA circulates through the mother’s blood, which can be extracted and analysed for genetic profiling in order to compare it with that of the presumed father. The sample can be taken as from the 8th week of gestation and it also allows the baby’s sex to be known.

Genomics and Transcriptomics

What types of projects can be addressed using nCounter technology?

nCounter technology is ideal for a broad range of applications related to translational research, including gene expression analysis, signature or tumour profiling, immuno-oncology treatment prediction studies, etc.

What types of samples can be analysed using the nCounter platform?

Assays for gene expression analysis conducted with the nCounter system can be performed from total RNA purified from cell lysates (guanidinium salts) or blood lysates (PAXGene™). Good results have also been obtained from total RNA isolated from fresh, frozen or FFPE tissue, provided the RNA meets minimum integrity requirements (more than 50% > 200 nt).

How much starting material is needed for an nCounter analysis?

For most gene expression assays, 100 – 200 ng of total RNA or a lysate of 10,000 cells is suggested. More or less material may be used to increase signal or reduce sample requirements, but quantification of extremely rare transcripts may be impaired when less material is used.

What is the maximum volume of purified RNA that can be used for a gene expression assay using the nCounter system?

If you wish to send purified RNA as a starting sample, 5 µl is the maximum recommended amount.

Can concentrated RNA be used as a starting sample for an nCounter assay?

Most assays require reasonable total RNA concentrations (20-30 ng/µL for mRNA). However, although the total yield of some samples may be sufficient, sometimes their concentration does not meet standard guidelines. In other situations, however, the use of highly degraded RNA from fixed samples, for instance, may require higher concentrations. Hence, it may sometimes be useful to concentrate the RNA more.

 

If you wish to concentrate the RNA before sending the sample for an nCounter assay, it is advisable to use a commercial RNA concentration kit. These usually both concentrate your sample and reduce any impurities that may negatively affect the test results.

How is the data generated using the nCounter platform analysed?

The nSolver analysis software is a data analysis program that gives nCounter users the ability to run quality checks, as well as normalise and analyse their data quickly and easily. The nSolver software also provides seamless integration and compatibility with other software packages designed for more complex analyses and visualisations. It is free for all nCounter users and available for download.

Genetic Diagnostics

What is the purpose of a FISH sperm test and when is it advisable to perform it?

The underlying causes of problems encountered in conception or pregnancy loss are multifactorial and in many cases there is no specific explanation for them. Some studies have focused on the male factor like, for example, analysing chromosomal abnormalities in sperm. It has been observed that a high percentage of abnormalities, together with other parameters, can lead to greater difficulty in achieving a successful pregnancy.

These chromosomal abnormalities can increase or decrease the cell’s normal number of chromosomes and can be detected using the FISH (Fluorescence In-Situ Hybridisation) technique.

For instance, this test is recommended when repeated miscarriages have occurred, if there is a history of failure in embryo implantation, in the case of previous pregnancies with chromosomopathy, etc., not to mention other cases. Receiving advice from a specialist will allow you to understand which assisted reproduction treatment is most suitable for your particular situation.

What is a sperm fragmentation test and when is it recommended?

The underlying causes of problems encountered in conception or pregnancy loss are multifactorial and in many cases there is no specific explanation for them. Some studies have focused on the male factor like, for example, analysing chromosomal abnormalities in sperm. It has been observed that a high percentage of abnormalities, together with other parameters, can lead to greater difficulty in achieving a successful pregnancy.

The sperm fragmentation test is used to study the integrity of the genetic material of spermatozoa in a semen sample; in the words, the presence of breaks or lesions in their DNA strands.

This parameter is put forward as a possible indicator of fertility since the integrity of sperm DNA influences the functional capacity of sperm. This is why performing this test is advisable, for instance, when repeated miscarriages have taken place, if there is a history of failed embryo implants, when the male is old, not to mention other cases. Receiving advice from a specialist will allow you to understand which assisted reproduction treatment is most suitable for your particular situation.

Proteomics

What kinds of samples can be analysed using SomaScan?

Human serum, plasma, urine and cerebrospinal fluid. If you wish to analyse any other type of sample, please contact our specialists for specific information about your case.

Can samples containing EDTA be tested?

Plasma samples containing EDTA are compatible with the SomaScan Assay 7K kit. Other chelating agents such as citrate and heparin are also compatible.

How much starting sample is required for a SomaScan analysis?

The required amount of sample varies by type, but in the case of plasma and serum, only 55 μL is required. Do not hesitate to contact our experts for detailed information based on your particular situation.

Can the SomaScan Assay 7K Kit be used for diagnostic purposes?

The SomaScan Assay 7K Kit is designed for research-only applications.

What is the minimum recommended number of samples per trial?

We suggest not sending less than 80 samples per test. However, we recommend that you contact our specialists to obtain accurate and personalised information about your particular situation.

Does the SomaScan platform detect Metabolomics?

The SomaScan Assay 7K has approximately 900 analytes on the menu that are relevant to Metabolomics, over 200 more analytes when compared to its closest competitors. Please visit https://menu.somalogic.com/ and filter by “Metabolic Diseases Panel” for a full list of the Metabolomics part of our menu.

Does the SomaScan platform detect peptides?

The SomaScan Assay 7K does not detect peptides. SOMAmer reagents are designed to bind to a specific epitope present on a folded protein. Visit https://somalogic.com/technology/ to find out more about the SomaScan Assay, SOMAmer reagents and our platform’s applications.

How long does it take from the start of the study until the results are received?

The estimated time is generally between two to three weeks, though it may vary depending on the type of study. We recommend you contact our specialists for specific information about your specific case.

What kind of quantification is obtained? Can absolute quantification be obtained?

The SomaScan assay provides relative quantification as a readout. Contact our specialists to find out more about data analysis.

What data is obtained? How is the raw data generated by the assay processed?

The Agilent scanner files are converted into .txt files, which are then processed to obtain ADAT files containing the RFUs (relative fluorescence units) of each SOMAmer. The client receives the ADAT files along with the quality control records.

What type of standardisation is applied to the results?

The data is delivered with and without ANMI standardisation (pre-standardised). You can use the standardised ANML data or use another standardisation strategy.

About Our Services

Forensic Genetics

At Citogen we are specialists in studies within this field, such as performing genetic profiling, paternity or other kinship tests, post-mortem studies, etc. from all kinds of samples containing biological remains.

Genomics and Transcriptomics

In the field of genomics and transcriptomics, we use state-of-the-art technologies such as nCounter, GeoMx-DSP, and NGS to analyse and understand genetic material and gene expressions. Our capabilities in this area allow us to offer valuable insights for research.

Genetic Diagnostics

At Citogen we have extensive experience in genetic diagnostics, offering tests to identify both point mutations and numerical and structural chromosomal abnormalities, thereby covering both the area of cytogenetics and molecular diagnostics. 

Proteomics

In the field of proteomics, we offer analysis services using SomaLogic technology. This allows us to look into and quantify proteins in biological samples, which is fundamental for studying a wide variety diseases and discovering biomarkers.

Do you have any further questions?

If you have not found the information you were looking for in the FAQ section, fill out this form and we will answer your questions as soon as possible.

    I have read and I accept the Data Privacy Policy

    I consent the use of my data to receive information and news

    The data controller of such processing will be CITOGEN, S.L.U. for the purpose of answering any queries raised by the user and sending them the information requested, as well as sending them information and news about our company if they have authorised it. By marking consent, you are legitimising such use. CITOGEN does not transfer data to third parties and solely does so if there is a legal obligation thereof. You may exercise your rights to access, rectification and erasure of your data at any time, as set out in our Data Privacy Policy .

    Contact us at comercial@cagt.es

    Or call us at +34 976 556 484