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.
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).
- 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,
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.
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).
Register at diagmol.pl and create a new user account.
After registering a new account, you can take advantage of a medical consultation or choose the test you are interested in yourself.
Choose the payment method – one-time rate or subscription.
Within several days you receive samples collection kit, necessary documents and a return label.
Send back the samples with the documentation to the lab.
Do 5 tygodni na Twoim profilu będzie dostępny wynik badania oraz termin telekonsultacji ze specjalistą.
You may buy / add in your subscription some more tests without additional samples.
It will take up to 5 days before the result is available in your profile along with the date of teleconsultation with a specialist.
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.
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.
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.
Our company cooperates with seats of learning and doctors.
We encourage you to familiarize with our offer and contact us.
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.
Gilbert's disease, also known as Gilbert's syndrome, is the most common inherited disorder of bilirubin metabolism. Individuals with this condition show mild elevation of unconjugated bilirubin in the blood, which can lead to mild jaundice. Although the disease is considered asymptomatic and non-life-threatening, it is important to understand its genetic basis.
Cystic fibrosis, also known as cystic fibrosis (CF), is a genetic disease of autosomal recessive inheritance that causes dysfunction of many organs, including the lungs and pancreas. The disease is linked to mutations in the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, which is located on chromosome 7.
Phenylketonuria is a genetically determined metabolic disease that is caused by a deficiency of the enzyme responsible for metabolising the amino acid phenylalanine in the body.
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