Fabry disease
Fabry disease is a genetic storage disease caused by mutations in the GLA gene. Below, I provide more detailed information on the genetics of Fabry disease, its prevalence and the treatments available.
August 17, 2023
WES test
(WES- whole exome sequencing)
The most precise test of genetic predisposition which includes analysis of all known mutations predisposing to development of a particular disease.
The price of the test includes consultations with a specialist of specific field (cinical geneticist, oncologist, diabetologist, gynaecologist, psychiatrist, cardiologist, neurologist, nephrologist, dermatologist, neonatologist, gastroenterologist, pulmonologist).
Badanie wolnokrążącego DNA płodu (NIPT)
- detection rate of 99.5% for trisomy 21
- very low false positive rate of 0.06% for trisomy 21
- excellent clinical validation, - largest NIPT clinical trial to date with 18 955 patients
- the test can be performed from as early as the 10th week of pregnancy,
- short lead times, on average 5 working days,
Onkologia spersonalizowana
Medycyna spersonalizowana opiera się na indywidualnym dostosowaniu strategii leczenia dla pacjenta.
It is therefore necessary to analyse the specific features and characteristics of the tumour in order to determine the best possible therapy with the best possible results and the least possible side effects.
In addition, some of this information can also be used to detect tumours at a very early stage or to screen for cancer in asymptomatic people.
Investigation of causes of miscarriages
The study analyses changes in the number of chromosomes: X, Y, 13, 15, 16, 18, 21, 22 -
their aneuploidies in embryos after miscarriage.
Test pozwala na ustalenie płci płodu
Badanie, po konsultacji z genetykiem można rozszerzyć o analizę przyczyn poronienia z wykorzystaniem sekwencjonowania całoeksomowego (WES).
Nasi partnerzy
How to order tests at Diagmol?
Step 1
Registration
Register at diagmol.pl and create a new user account.
Step 2
Medical consultation/test selection
After registering a new account, you can take advantage of a medical consultation or choose the test you are interested in yourself.
Step 3
Payment method
Choose the payment method – one-time rate or subscription.
Step 4
Samples collection
Within several days you receive samples collection kit, necessary documents and a return label.
Step 5
Returning samples
Send back the samples with the documentation to the lab.
Step 6
Results of your test
Do 5 tygodni na Twoim profilu będzie dostępny wynik badania oraz termin telekonsultacji ze specjalistą.
Additional tests
Additional tests
You may buy / add in your subscription some more tests without additional samples.
Step 8
Results
It will take up to 5 days before the result is available in your profile along with the date of teleconsultation with a specialist.
Why is it worth having tests at Diagmol?
Every disease is curable when diagnosed early.
Tests based on whole genome sequencing enable the reanalysis of the material toward most other diseases at any time.
What does it look like in a schematic way:
you order a WES test for predisposal for lung cancer.
We send the necessary documentation and samples collection kit at the designated address.
Our molecular diagnostic test
prove high effectiveness
Test of predisposition for diseases using high-performance techniques of molecular biology such as whole exome sequencing enables to reach the sensitivity at the level of 99,8%. Additionally, every result is consulted with a specialist in order to find the best therapeutic path.
We offer wide selection
of diagnostic tests
Our offer is constantly enlarging and is based on the algorithm testing the newest scientific achievements (publications, databases), genetic changes in correlation with the tested disease unit.
If you are unable to find the test – panel with a disease of your interest, contact us. We will provide you with the panel within 7 days.
Diagmol offer for specialists
Our company cooperates with seats of learning and doctors.
We encourage you to familiarize with our offer and contact us.
Customers’ opinions
"I am very pleased with the test. I was impressed by the low price, the very short time of receiving the sample kit and then my results. "
"Everything was fine. The instruction on the website is precise when it comes to taking the sample. I received my results in a very short time."
"I received my results in the designated time, the sample kit was well packed a and easy to use. I highly recommend the service!"
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Still in doubt? Any questions?
We encourage you to contact us to resolve any doubts!
Write to us using the contact form or call us.
