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Medical Genetics

Levine Children's Hospital provides genetic testing, counseling, education and referral services. Our staff includes geneticists and genetic counselors who strive to provide a comfortable and friendly environment for patients and their families. Genetic Specialists work with patients and their families to diagnose genetic problems, and to counsel families regarding prognosis, treatment and/or rehabilitation, recurrence risks, and the availability of prenatal diagnosis.

Services:

  • Evaluation and testing for people with known or suspected genetic disorder, including...
    • Distinctive physical features or birth defects
    • Developmental delays or cognitive impairment and poor growth
    • Down syndrome
    • Muscular dystrophy
    • Skeletal dysplasias
  • Information about specific genetic diseases
  • Comprehensive case management with referral to medical specialists, community resources and support groups
  • Family history analysis and genetic counseling to discuss reproductive options
  • Chromosomal, metabolic and DNA analysis for diagnosis of genetic disease
  • Evaluation and management for children with genetic metabolic disorders
  • Cancer risk assessment for families with hereditary cancer syndromes

Conditions diagnosed and managed include:

  • Abnormal stature for age (too tall or too short)
  • Conditions involving developmental delay or mental retardation
  • Chromosome Disorders
  • Cleft palate
  • Down Syndrome
  • Familial Cancer
  • Fragile X
  • Heart defect present at birth
  • Metabolic disorders
  • Multiple congenital anomaly syndromes
  • Neurofibromatosis
  • Prader Willi Syndrome
  • Prenatal exposure to a dangerous chemical such as alcohol, Dilantin or cocaine
  • Spina Bifida
  • Williams Syndrome

Growth:

Our program was established in 1971 and the program continues to serve an ever growing local population with clinic visits increasing steadily year and year. Physician evaluations increased 5% in 2009. Over the past 5 years there was been a 62% increase. The Cancer Genetic Counseling Program has been expanded to include services at CMC-Northeast at the Battle Cancer Center. In addition to the increase in patient volumes, physicians and staff have been invited speakers at national regional and local professional meetings. Our staff are also visible serving in our community (Down Syndrome Association of Charlotte, Playing for Others) as well as nationally (National Down Syndrome Congress).

Physicians and other key contacts:

J. Edward Spence, MD-Medical Geneticist;Director,Clinical Genetics Program
Susan E. Sparks, MD-Medical Geneticist
Laurie Demmer, MD - Medical Geneticist
Frank S. Grass, PhD - Director, Parke Cytogenetics Laboratory
John W. Longshore, PhD - Director, Molecular Pathology Laboratory
Cam Brasington, MS, CGC - Genetic Counselor
Shelley Dills, MS, CGC - Genetic Counselor
Ann Lucas, MS, CGC - Genetic Counselor
Ann Martin, MS, CGC - Genetic Counselor
Paige Layman, MS, CGC - Genetic Counselor
Lisa Amacker North, MS, CGC - Genetic Counselor
Brook White, ScM, CGC - Genetic Counselor

Additional Information: 

Referral Forms

Genetics Registration Form

Genetics Medical History Form

Genetics Medical History Form-Established Patients

Locations:
LCH Children's Specialty Center-Medical Center Plaza
1001 Blythe Blvd. Suite 200
Charlotte, NC 28203
Phone: 704-381-6810
Fax: 704-381-6811
8 a.m. - 5 p.m., Monday - Friday
Map

LCH Children's Specialty Center - Morrocroft
4501 Cameron Valley Parkway Suite 300
Charlotte, NC 28211
Phone: 704-381-6810
Fax: 704-381-6811  

Why Levine Children's Hospital?

  • Board-certified physicians are available around the clock
  • The only site for clinical genetic evaluations in the region
  • The genetics program includes on-site chromosome and molecular laboratories with Board-certified directors
  • Geneticists work closely with maternal-fetal medical specialists at the CMC Women's Institute

 

 

 

 

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