Children's Medical Genetics Services

Medical genetics services are provided at Children's of Mississippi by physicians board certified in medical genetics and one or more subspecialties. Our metabolic team is trained in the comprehensive and complex evaluation and management of high-risk metabolic/genetic patients with birth defects, inborn errors of metabolism and other genetic disorders with nutrition-related issues.

Services

• Children's genetic evaluation and treatment
  • Amino acid or organic acid disorders
  • Autism
    • Autistic disorder
  • Chromosomal abnormalities (e.g., Down syndrome/Trisomy 21, Klinefelter syndrome and Turner syndrome)
  • Congenital deafness, developmental delay or intellectual disabilities
  • Evaluation of abnormal newborn screening test results
    • Newborn screening tests
  • Fatty acid oxidation or urea cycle disorders (e.g., MCAD deficiency)
  • Glycogen storage diseases
  • Lysosomal storage diseases (Fabry disease, Hurler-Scheie disease, Pompe disease, Gaucher disease, Hunter disease)
  • Multiple congenital anomalies/ birth defects
  • Mitochondrial or peroxisomal disorders
  • Short stature of non-endocrine origin
• Prenatal services
  In collaboration with a pregnant woman's obstetrician, we help interpret abnormal maternal serum biochemical screens; fetal ultrasound abnormalities; fetal chromosome abnormalities detected on amniocentesis or chorionic villus sampling; infertility/recurrent miscarriages; and stillbirth/ fetal demise pathology reviews.