Genetics

Our geneticist’s primary expertise as a subspecialist is in childhood genetic disease, evaluating children with growth or learning differences, developmental disabilities, syndromes and, to some extent, metabolic disease. This also extends to reproductive medicine in conjunction with Driscoll’s maternal fetal medicine specialists. We conduct full genetic evaluation with medical and family history, physical, review of laboratory results and then discussion of genetic testing options.

Patients can be seen for clinical genetic, developmental and to some extent metabolic evaluation at Driscoll Children’s Hospital or outreach clinics in Victoria, Harlingen, McAllen or Laredo.

Services

  • Clinical evaluation and comprehensive diagnostic services for genetic conditions
  • Genetic risk assessment for individuals and families
  • Genetic counseling resources and psychosocial support
  • Facilitation of ordering, consent and interpretation for genetic tests
  • Coordination of care with other medical specialists and genetic testing laboratories
  • Genetic diagnostic evaluations for children with developmental delays, autism spectrum disorders, chromosomal abnormalities, or a family history of a genetic disorder
  • Inpatient and outpatient evaluations for infants, children or adolescents with multiple congenital anomalies or a suspected genetic syndrome, including:
    • Neurofibromatosis type
    • Cleft lip and/or cleft palate
    • Chromosome abnormalities
    • Deafness
    • Beckwith-Wiedemann syndrome

Prenatal Genetics

  • Preconception counseling: evaluate patients desiring pregnancy with genetic concerns, recurrent pregnancy losses or advanced maternal age
  • Prenatal genetic counseling for abnormal maternal serum screening for open neural tube defects (spina bifida), chromosomal abnormalities (aneuploidy) or abnormal fetal sonogram findings
  • Multi-disciplinary approach to prenatal genetic diagnostics for maternal genetic conditions or family history of a genetic disorder