Genetic Services

THE GENETIC STUDY OF EMBRYOS. PREIMPLANTATION GENETIC DIAGNOSIS (PGD)

ANEUPLOIDY SCREENING

  • PGD 5 chromosomes (13, 18, 21, X, Y)
  • PGD 9 chromosomes (13, 15, 16, 17, 18, 21, 22, X, Y)
  • PGD 24 chromosomes

CHROMOSOMAL REARRANGEMENTS

  • PGD for Robertsonian translocations
  • PGD for Robertsonian translocations + aneuploidy study of 5 chromosomes
  • PGD for Robertsonian translocations + aneuploidy study of 24 chromosomes (contact us)
  • Informativity study for chromosomal rearrangements (reciprocal translocations, inversions, etc.)
  • PGD for Reciprocal translocations
  • PGD for Reciprocal translocations + aneuploidy study of 5 chromosomes
  • PGD for Reciprocal translocations + aneuploidy study of 24 chromosomes (contact us)
  • Informativity study for complex chromosomal rearrangements
  • FISH in spermatozoa for the segregation study for chromosomal rearrangements

MONOGENIC DISEASES

  • Informativity Study for monogenic diseases
  • PGD for monogenic diseases (*)

(*) Currently the Genetics Laboratory at Institut Marquès can study more than 200 monogenic diseases (see Annex 6). This list is constantly evolving; if a causative gene is discovered then the tools to complete Preimplantation Genetic Diagnosis on carrier embryos can be created.

THE GENETIC STUDY OF OOCYTES
  • PGD 5 chromosomes in oocytes by means of polar body biopsy
MALE INFERTILITY STUDIES
  • The study of meiosis in testes
  • Sperm FISH 5 chromosomes (X, Y, 13, 18, 21)
  • DNA fragmentation test
  • Male infertility study (Sperm FISH / DNA Fragmentation)
GENETIC SCREENING (Patients and donors of gametes)
  • Screening for Cystic Fibrosis (50 mutations* + Tn polymorphism)
    Screening of the most common CFTR gene mutations.
    * This test is also able to detect, although not identify, 155 insertions or deletions in the CFTR gene
  • Screening for Fragile XAmplification of the CGG repeat in the FMR1 gene, and quantification of the number of repeats (for normal alleles and premutations).
  • Thrombofilia screening*Detection of Factor V Leyden (G1961A), the G20210A mutation (Factor II, the Prothrombin gene) and theC677T mutation in the MTHFR gene.
    *This test allows us to distinguish between hetero and homozygotic carriers of all these mutations
OTHER SERVICES
  • Embryo biopsy and fixation/tubing of blastomeres
    (done by the staff of the Genetics Laboratory at Institut Marquès)
  • Biopsy and fixation/tubing of polar bodies(done by the staff of the Genetics Laboratory at Institut Marquès)
  • Fixation/tubing of blastomeres(done by the staff of the Genetics Laboratory at Institut Marquès)
  • Fixation/tubing of polar bodies(done by the staff of the Genetics Laboratory at Institut Marquès)
  • Genetics advisory service for centres for reproduction
  • Genetics advisory service for patients
  • Training in embryo biopsy and fixation of blastomeres for professionals