GeneSafe™

What is GeneSafe™?

GeneSafe™ is the first non-invasive prenatal test that screens the fetus for both de novo and inherited single-gene disorders. From the 10th week of pregnancy, a sample safely taken from the mother's blood is used to screen the fetus for many inherited single-gene disorders. GeneSafe is a screening test; a positive result must be confirmed by CVS or amniocentesis, and a negative result does not rule out the condition. Genetic counseling is advised.

Among the current PrenatalSafe non-invasive prenatal tests (NIPT), only PrenatalSafe Complete Plus and Full risk include GeneSafe Complete

GeneSafeInherited Diseases

  • Cystic Fibrosis — CFTR Beta Thalassemia — HBB Sickle Cell Anemia — HBB Autosomal Recessive Hereditary Hearing Loss Type 1A — GJB2 (CX26) Autosomal Recessive Hereditary Hearing Loss Type 1B — GJB6 (CX30)
  • The carrier status of the parents should be known; if both parents are carriers (e.g., thalassemia), diagnostic testing by CVS/amniocentesis is recommended.

    GeneSafeDe novo

    • Alagille Syndrome — CHARGE Syndrome — Cornelia de Lange Syndrome — Rett Syndrome Sotos Syndrome — Bohring-Opitz Syndrome — Schinzel-Giedion Syndrome — Holoprosencephaly Antley-Bixler Syndrome — Apert Syndrome — Crouzon Syndrome Jackson-Weiss Syndrome — Pfeiffer Syndrome — Noonan Syndrome — Cardio-Facio-Cutaneous Syndrome — Noonan-like Syndromes — LEOPARD Syndrome — Achondrogenesis Achondroplasia CATSHL Syndrome — Hypochondroplasia Muenke Syndrome — Thanatophoric Dysplasia Ehlers-Danlos Syndrome — Osteogenesis Imperfecta

      GeneSafeComplete

      • GeneSafe Inherited + GeneSafe de novo
      • The broadest GeneSafe panel