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Single Gene Testing

From Uncertainty to Clarity in Prenatal Diagnosis

Disease-causing (pathogenic) genetic variants previously identified in family members can be directly analyzed, providing accurate and timely guidance for families with a history of genetic disorders.

Pathogenic variants identified through parental carrier screening can, where technically feasible and clinically appropriate, be evaluated using prenatal single-gene testing to determine the genetic status of the fetus. (See: IntelliGene Carrier Screening)

To help clarify clinically suspected structural anomalies or findings associated with a family history during pregnancy, we offer comprehensive prenatal panels targeting the most common single-gene disorders, including:

  • Noonan Syndrome and RASopathies Panel,
  • CAKUT (Congenital Anomalies of the Kidney and Urinary Tract) Panel,
  • Tuberous Sclerosis and Neurocutaneous Syndromes Panel,
  • Skeletal Dysplasias and Osteogenesis Imperfecta Panel,
  • Holoprosencephaly (HPE) Panel and additional panels for other single-gene disorders.
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