Metabolic Disease: Referral Directory

Physician Contacts:

Key Contacts:

  • Martha Barton, L.M.S.W. - Social Worker 
  • Judy Fan, MS - Genetic Counselor
  • Debby Johnson, RD, LD, CDE - Practice Administrator 
  • Callie Langworthy, MS - Genetic Counselor
  • Donnice Michel, MS, CGC - Genetic Counselor
  • Christine Quinn, MS, CGC - Genetic Counselor
  • Mary Susan Spears, MS, RD, CSP, LD - Dietitian

Description of services:

  • Evaluation and testing for children with known or suspected inborn errors of metabolism
  • Education about specific inborn errors of metabolism
  • Comprehensive case management with referral to medical specialists, community resources and support groups
  • Family history analysis and genetic counseling to discuss reproductive options as pertains to inborn errors of metabolism
  • Consultation regarding abnormal newborn screening and metabolic testing results 

Procedures performed or problems diagnosed and treated:

  • Treatment for metabolic disorders
  • Blood, urine, enzyme and DNA analysis for diagnosis of inborn errors of metabolism
  • Nutritional evaluation and counseling for children with inborn errors of metabolism
  • Psychosocial assessment and counseling
  • Follow up testing for abnormal newborn screens

Information for referral sources:

  • Please fax relevant medical records and testing results to 214-456-2567.
  • Records will be reviewed by a genetic counselor and physician.
  • Approporiate referrals will be scheduled.
  • Referring physician will be contacted regarding referrals more appropriately addressed by another specialty.
  • Abnormal lab results without relevant clinical findings may not require an evaluation, but will be reviewed by a physician to determine weather or not an inborn error of metabolism is suspected.
  • Diagnosis, evaluation and recommended treatment information is provided promptly to the referring physician.

Please provide the following when calling to schedule a patient for a diagnostic examination:

  • Patient name and date of birth
  • Probable diagnosis
  • Insurance/referral information
  • Physician clinical findings or symptoms which caused the patient to visit physician

Related Listings:

UT Southwestern Medical Center

Pediatric Genetics and Metabolism Program

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