The Reprogenetics Laboratory of Fecunditas offers PGD testing for Chromosomal and Mendelian diseases, Aneuploidy screening, Gender choice and HLA typing.

Aneuploidy testing using FISH probes, QF-PCR or aCGH

PGD for specific chromosome translocations and other structural anomalies using FISH, QF-PCR and molecular karyotype with the aCGH.
Gender Selection for chromosomes X and Y using FISH probes or PCR-Based DNA amplification.

Single Gene Disorders: using PCR-based DNA amplification such as
• Cystic Fibrosis
• Fragile X syndrome
• Myotonic Dystrophy
• Kennedy Syndrome
• Spinal Muscular Atrophy-1 (SMA-1)
• Spinal Cerebelar Ataxia
• Duchenne Muscular Dystrophy
• Hemophilia
• RhD incompatibility
• Alport Syndrome
• Hiperammonimia due to OTC deficiency
• In addition, other specific gene disorders with prior request

Evaluation of the reproductive genetic risk:
• Karyotype in peripheral blood with conventional techniques and FISH
• Cystic fibrosis mutations
• Fragile X
• Expansions of CGT triplete (Myotonic Distrophy)
• Expansions of CAG triplete X-linked
• FISH in semen
• Study of segregation paterns in gametes from carriers of balanced  chromosome

  rearrangements.

• Cytogenetic meiotic study in testicular biopsy and oocytes matured in vitro.

Molecular karyotye by aCGH

Genetic Counseling: counseling is available and can be arranged upon prior request.