PANDA Infertility, primary testing offered as a part of preconception diagnosis, which ...
is tailored for patients who are dealing with infertility
reveals genetic predispositions to diseases, congenital preconditions to abortions, causes of ovulation defects and aberrant embryo development
allows detection of thrombophilic mutations and most common rare diseases (cystic fibrosis, spinal muscular atrophy, deafness and fragile X syndrome)
supports safe ovarian stimulation, predicts embryo development and reveals risk factors for pregnancy
is performed from the peripheral blood sample
What is PANDA?
PANDA (PANel Diagnostic Analysis) is a diagnostic test developed at the Repromeda clinic, tailored especially for patients who come with fertility issues. PANDA completely replaced previously used methods in preconception genetic diagnosis and since its introduction in 2017, more than 3000 patients have already undergone the test.
In the past, we offered couples testing for cystic fibrosis and azoospermic factor for men and diagnosis of spinal muscular atrophy and thrombophilic mutations for women, as well as testing for fragile X syndrome on request. Thanks to PANDA we are able to test dozens of genes within one single examination, thus providing patients with more complex and more extensive information about their health condition and mutual reproductive compatibility.
Who is PANDA suitable for?
This test, performed from the blood sample, is suitable both for patients that undergo infertility treatment, as well as couples, who try to conceive naturally and want to prevent the risk of pregnancy complications (for example, in case of thrombophilic mutations in the female partner, the patient is treated with low molecular heparin and is further monitored by a haematologist) or to prevent a risk of a baby born with severe genetic disease. PANDA is also available for oocyte and sperm donors. The output of the test is complex information about genetic health conditions of patients and also their matching to a reproduction partner.
How PANDA works and what sort of information do patients get?
The main focus of PANDA is testing monogenic diseases with autosomal recessive and X-linked type of heredity with high prevalence in the population (genes CFTR, SMN1, GJB2, FMR1), further, it analyzes genes that could clarify aetiology of reproduction complications in a couple and causes of infertility (PLK4, ANXA5, AR, microdeletions on chromosome Y). The added value of the test is the assessment of a patient´s individual response to follicle-stimulating, choriogonadotropin and luteinizing hormones. Thanks to that information, hormonal stimulation in the following IVF cycle could be optimized to obtain the maximum number of oocytes and minimize the risk of developing an ovarian hyperstimulation syndrome at the same time.
What are the advantages of PANDA?
A considerable part of laboratory work is fully automated thanks to the pipetting workstation (Sciclone G3 NGS Automated Workstation, Perkin Elmer) which, along with the analysis of the samples using next-generation sequencing, provide us most correct and reliable results. Moreover, the whole process is very time efficient in comparison to less sophisticated methods based on PCR and fragmentation analysis used in the past. When evaluating the results, we use two independent software and our own bioinformatics pipeline; clinical relevance of detected variants is assessed with the help of databases and prediction tools.
Patients get complete results of the testing along with the description of detected variants within four weeks from blood collection. The following step is the counselling with a clinical geneticist.
If both partners carry the pathogenic variant in the same gene, with autosomal recessive disorders there is a 25% risk of passing the disease to offspring. In such a case, we can offer Preimplantation genetic testing of monogenic disease (PGT-M) using Karyomapping method and thus select an embryo without genetic mutation for transfer.