Metabolic Disease: Referral Directory
- 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