Single-Gene Preimplantation Genetic Diagnosis (PGD)

CCRM is pleased to offer preimplantation genetic diagnosis (PGD), a form of genetic testing that allows couples at risk for single gene disorders to have embryos tested before a pregnancy is established. PGD is preformed in conjunction with IVF.

PGD can be performed for any preexisting known inherited, single gene disorder including autosomal recessive (eg, cystic fibrosis), autosomal dominant (eg, Huntington disease) and X-linked (eg, fragile X) disorders. PGD involves molecular testing of biopsied embryonic cells with only the embryos identified to be free of the indicated genetic disorder selected for transfer to the patient’s uterus. Thousands of unaffected children have been born worldwide from PGD for over 100 different single gene disorders.

For more information regarding PGD, please contact (303) 788-8300.

Send a request to schedule an appointment.

Here at CCRM we have performed PGD for the following single gene disorders:

    • Neurofibromatosis (NF-1, NF-2)
    • Polycystic kidney disease (PKD)
    • Cystic fibrosis (CF)
    • Fragile X syndrome
    • Marfan syndrome
    • Breast cancer (BRCA1 & BRCA2)
    • Hemophilia A
    • Beta-thalassemia
    • Sickle cell disease
    • Spinal muscular atrophy (SMA)
    • Oculocutaneous albinism
    • Primary carnitine deficiency
    • Hyper IgM syndrome
    • Kell antigen
    • Huntington disease (HD)
    • Monilethrix
    • Torsion dystonia
    • Familial hyperinsulinism
    • Wolfram syndrome
    • Galactosemia
    • Myotonic dystrophy
    • Alpers syndrome
    • Epidermolysis bullosa
    • Meckel-Gruber
    • Machado-Joseph ataxia
    • Wiskott-Aldrich
    • Alpha-1-antitrypsin
    • Hereditary hemorrhagic telangiectasia