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Genetics & Metabolism - Pediatric

Newborn baby sleeping in crib

The sequencing of the human genome and the technology that made it possible has led to a vast increase in knowledge about human health and disease. New understanding of genes and their organization, regulation, and modification has been enhanced by the rapidly evolving methods for molecular analysis involving identification of aberrant genetic processes and biochemical pathways.

The Division of Genetics and Metabolism makes use of this growing base of information and employs all current methods available for providing diagnosis and treatment for genetic disorders, birth defects, chromosome problems, biochemical disorders and many conditions that have a genetic cause or genetic-molecular component.

The Division addresses problems that may involve any organ system or tissue, cell or molecular component of human disease.

Division members work to identify and treat a wide variety of conditions and are committed to providing patient and family education about genetic disorders that may be relatively common or exquisitely rare.

The Division works with the Kentucky Department of Health, Division of Newborn Screening to provide follow up for biochemical disorders suspected on the basis of universal infant blood spot screening.

Staff Members include physician, nurses, therapeutic dietitian, lab specialists, genetic counselors, staff coordinators and often physicians in training. Staff members have many years of training and experience.

Patient referrals

For patient appointments, please ask your primary care provider or pediatrician to make a referral.

Health care providers, please visit our referral page to refer your patient to this service.

  • Services

    Disorders evaluated:

    • Chromosomal disorders
    • Inborn errors in metabolism
    • Newborn screening results
    • Ciliopathies
    • Birth defects
    • Developmental delays and intellectual disabilities
    • Neurofibromatosis
    • Connective tissue disorders
    • Neurogenetics
    • Skeletal dysplasias
    • Cardiovascular genetics
    • Other genetic disorders

    Special services:

    • Phenylketonuria Research
      • PKU patient registry
      • Experimental treatment protocol
    • Enzyme Replacement Therapy
    • Outreach clinics
    • Genetic counseling
    • Therapeutic dietary counseling