Other tests and services

preconceptional carrier screening chromosomes

Genetic study of infertility

Karyotypec

Other services:

 

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

Carrier screening a postnatal
  • 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

Other services prenatal

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 .

FERT&i® Test

FERT&i® (by Pronacera) is a comprehensive study of endometrial functionality and receptivity,  it is a test that can identify the period in which the endometrium presents the ideal conditions for implantation through gene expression analysis of 40 genes in an 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 Phosphorus Panels

Infertility panel tests by NGS (next generation sequencing) multiple genetic factors that can play a critical in the patient’s fertility.

  • Female fertility panel: Includes the analysis of 73 genes associated with increased risks for female infertility (primary ovarian insufficiency, polycystic ovary syndrome, sex chromosome aneuploidy, ovarian hyperstimulation syndrome and thrombophilia related pregnancy loss).
  • Male infertility panel: includes the analysis of 20 genes associated with increased risks for male infertility (Y chromosome microdeletions, congenital absence of the vas deferens, sex chromosome aneuploidy and other causes of male factor infertility)

 

This test allows an early identification of patients at risk of fertility problems due to genetic factors. Thus, couples can benefit from an early intervention and a personalized reproductive treatment according the results.

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.

Training for professionals in the Reproductive Medicine field