Services for professionals

-Aneuploidy screening (3, 5, 7, 9 and 12 chromosomes):oocytes and embryos

-Aneuploidy screening for all chromosomes (24). New Service
     Request form to be sent with sample (PGS - Aneuploidy screening)

-Chromosomal reorganisations  
    - Robertsonian translocations
    - Robertsonian translocations and aneuploidy screening 
    - Work-up study for reciprocal translocations
    - Reciprocal translocations
    - Reciprocal translocations and aneuploidy screening*
      (*) If technically possible
 Request form to be sent with sample (Work-up study for chromosomal rearrangements)
 Request form to be sent with sample (PGD for chromosomal rearrangements)

-PGD for single gene disorders
    - Work-up study for single gene disorders
    - PGD for single gene disorders
 Request form to be sent with samples (Work-up study for single gene disorders)

Currently, the Centre for Embryo Medicine offers the study for over 200 single gene disorders. The list is constantly growing as it is possible to offer PGD for most conditions where a molecular diagnosis has been established. For more information, please contact CEM. If needed, CEM can provide your centre with consent forms for PGS/PGD.

-Sperm FISH
    - 5 chromosomes (X, Y, 13, 18, 21)
    - Segregation of chromosomal reorganizations.
      (Consult with the center)

-Sperm DNA fragmentation test

-Male infertility study (FISH and DNA Fragmentation)
Request form to be sent with sample (male infertility genetic study)

-Meiosis study

Before sending a sample you must send this Donors Genetic Screening request form to CEM.

Cystic Fibrosis (50 mutations* + IVS8-Tn variant)

Mutations detected: F508del, G542X, N1303K, 1811+1.6kbA>G, R334W, L206W, 711+1G>T, Q890X, R1162X, 2789+5G>A, R1066C, I507del, 3272-26A>G, 2184delA/2183AA>G, G85E, W1282X, 1078delT, 3849+10kbC>T, 621+1G>T, R347H, R347P, R553X, S549R, 1667delTA, 1717-1G>A, CFTRdele2_3, D1152H, G551D, M1101K, R117H, Y1092X, 1898+1G>A, 2143delT, 2347delG, 3120+1G>A, 3659delC, 3905insT, 394delTT, 444delA, A455E, E60X, P67L, R1158X, R117C, R560T, S1251N, S549N, V520F, W846X, Y122X, polimorfismo IVS8-5T/7T/9T.
Additionally, the test is able to detect, but no identify, 155 insertions/deletions in CFTR gene.

Request form to be sent with sample (Molecular Genetic screening)

Fragile-X Syndrome

Amplification of the CGG repetitive region in FMR1 gene and determination of repeat number (for normal alleles and premutations). The test is able to detect complete mutations without detailing number of repeats.

Request form to be sent with sample (Molecular Genetic screening)

- Embryo biopsy and blastomere fixation/tubing. CME personnel can travel to the IVF centre and carry out the biopsy of the embryos or the fixation/tubing of the blastomeres for PGD cases.

- Polar body biopsy and fixation. CEM personnel can travel to the IVF centre to carry out oocyte biopsy techniques and polar body fixation for PGD cases.

- Genetic counselling for centres

- Genetic counselling for patients

- Training in biopsy and fixation
Personal training and supervision until complete mastering of skills.