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Preimplantation Genetic Testing for Monogenic Disorders2019-02-18T15:45:17-07:00

Preimplantation Genetic
Testing for Monogenic
Disorders (PGT-M)

CCRM is pleased to offer PGT-M, or preimplantation genetic testing for monogenic disorders, a form of genetic testing that allows patients at-risk for single gene disorders to have embryos tested before a pregnancy is established. PGT-M is performed in conjunction with IVF.

PGT-M 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. PGT-M 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. Tens of thousands of unaffected children have been born worldwide from PGT-M for hundreds of different single gene disorders.

For more information regarding PGT-M, please contact us today.

At CCRM, we have performed PGT-M 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
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