Other tests and services
Genetic study of infertility
Genetic Male infertility
- Karyotyping in blood in case of infertility, recurrent miscarriage, abnormal seminal parameters, and/or endocrines problems.
- Sperm Aneuploidy analysis by FISH (chromosomes 13, 18, 21, X and Y) and Sperm DNA fragmentation test by SCD kit in case of altered seminal parameters.
- Y chromosome microdeletion in case of non-obstructive azoospermia or severe oligozoospermia.
- Single gene testing for CFTR pathogenic variants (Cystic fibrosis) in cases of congenital bilateral absence of the Vas Deferens.
Genetic Female infertility
- Karyotyping in blood in case of infertility, recurrent miscarriages, abnormal seminal parameters, and/or endocrine problems.
- FMR1 gene test (Fragile X syndrome) in case of Premature Ovarian Failure.
- Thrombophilia genetic testing in case of recurrent miscarriages and infertility.
Postnatal Services
- Karyotyping in blood
- Array CGH for copy number variant detection
- Whole Exome Sequencing with report of clinically relevant findings
- Clinical Exome single
- Clinical Exome duo
- Clinical Exome trio
- Targeted NGS panels (cardiology, familial cancer, intellectual disability, skeletal dysplasia, neurologic disorders, mitochondrial diseases, dislipemies, immunodeficiencies, etc.)
- Fragile X Syndrome: FMR1 gene test
- Beta-Thalassemia: HBB gene sequencing
- Alpha-Thalassemia: Deletion screening in HBA1 and HBA2 genes by MLPA.
- Mutation searching to detect any specific gene condition by gene sequencing, MLPA and/or NGS.
- Molecular analysis of a specific known genetic mutation (Carrier testing of a known familial mutation).
Prenatal genetic testing
In Amniotic fluid, chorionic villi sample or fetal blood:
- NIPT (non-invasive prenatal testing in maternal blood)
- Karyotyping
- QF-PCR (Chromosomes 13, 18, 21, X and Y)
- Array-CGH for copy number variant detection
- Molecular analysis of a specific known genetic mutation
Consult your case with your gynecologist .
Endometrial Receptivity Test
ERPeak (CooperSurgical) is a comprehensive study of endometrial functionality and receptivity, it is a test that can identify the windows of implantation (WOI), which is the short period in which the endometrium presents the ideal conditions for implantation, through a single endometrial biopsy.
The test helps to increase the chances of success of the in vitro fertilization treatment and it is specially recommended for couples who have experienced repeated IVF failures after the transfer of good quality embryos.
Infertility Panels
infertility panel detect numerous genetic variants associated with infertility, as well as whole, partial and mosaic sex chromosome changes. An add-on haemophilia and thrombosis panel that checks for specific genetic variants associated with recurrent pregnancy loss is also available.
- Female infertility panel: Testing of 55 genes and whole, partial and mosaic sex chromosome aneuploidies. Disorders tested include primary ovarian insufficiency, ovarian hyperstimulation syndrome and hypogonadotropic hypogonadism such as Kallmann syndrome.
- Male infertility panel: Testing of 40 genes and whole, partial and mosaic sex chromosome aneuploidies, including Y chromosome microdeletions. Disorders tested include hypogonadotropic hypogonadism such as Kallmann syndrome.
- Add-on: HAEMOPHILIA AND THROMBOSIS PANEL. Tests for 21 genetic variants in 16 genes
Genetic counseling services
PGDLabs has a specialized professional team ready to provide advice to patients and families affected by or at risk of genetic disorders, to help them understand the medical, psychological and familial implications of genetic characteristics to disease.
