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Searching for mutations in about 23 000 genes!

Selection 118

 

The human body is composed of proteins, which are made of a string of amino acids. The sequence of amino acids is saved in the DNA and more specifically in exones - sections responsible for coding (check the diagram). Usually proteins of all living organisms consist of 20 amino acids. DNA mutations may cause serious protein disorders which can be the source of a disease.

 

 

 

 

 

 

 


Genetic diagnosis (searching for mutations) for various diseases is based on diagnostic tests or the traditional sequencing method (so-called Sanger sequencing). Although these methods are really effective and common in medicine, they are most often used for analysing only one gene.

MedGen, as one of the first medical centers in Poland, has implemented for medical diagnostics NEXT GENERATION SEQUENCING - NGS. This technology allows to analyze all the genes at once which significantly reduces costs of a genetic test and increases the possibility of finding a pathogrenic mutation.

Out offer includes analysis of all exones (Whole Exome Sequencing)  as well as specific gene groups.

 

 Comparision of techniques for diagnosing genetic mutations

   Sanger Sequencing or other laboratory methods NGS Panels WES NGS
 What is it? Traditional methods of mutation detection Analysis of selected gene groups connected with specific diseases Sequencing of all exones sections responsible for coding)
 How many genes at once? Usually 1 gene Up to several hundred genes All known genes (about 23000)
 Effectiveness >99,5%
 Waiting time 2-8 weeks
 Price
130 - 6000 zł/gene
~0.3 zł/gene* ~0.17 zł/gene*
*total price depends on the number of analyzed genes and analysis scope

The NGS test can be ordered by anyone even for preventive purposes (verification of mutation carrier)

The NGS test should be proposed to patients, in which genetic diagnostics carried out so far failed to give an answer – did not indentify any genetic defect responsible for the clinic problem, as well as in cases when the diagnostics assessed by the clinical genetics doctor will be very costly due to the complexity of the medical problem.

CM MedGen's laboratory has a guarantee certificate for performing NGS tests issued by the EMQN organisation.

 

Patients Physicians

Warmly welcome patients to CM MedGen's Genetic Clinic for genetic consultations.
Address: ul. Wiktorii Wiedeńskiej 9a, Warsaw, Poland

registraton:

- phone: +48 512 40 90 90 or +48 507 377 150
- e-mail: This email address is being protected from spambots. You need JavaScript enabled to view it.

Physicians, having patients under care for whom conducting the NGS test would be advisable, are asked to contact MedGen's diagnostic department directly:

- e-mail: This email address is being protected from spambots. You need JavaScript enabled to view it.
- phone: +48 506 069 568

 

In out facility, range of the NGS test is always adjusted to the patient's cilinical symptoms, which is an essential element of the personalised medicine. You can find the full offer of NGS tests here.