Metabolic Disease: Referral Directory
Physician Contacts:
Lewis J. Waber, M.D., Ph.D. - Medical Director
Key Contacts:
- Gail Brookshire MS, CGC-Genetic Counseling
- Martha Barton, L.M.S.W. - Psychosocial support.
- Katie Green, MS, RD, LD - Nutrition evaluation and counseling for children with genetic disorders
- Donnice Michel, MS, CGC - Genetic Counseling
- Christine Quinn, MS, CGC - Genetic Counseling
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
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
Information for referral sources:
- Self-referral or healthcare professional referral accepted.
- Pre-authorization is required by some insurance plans.
- To avoid unnecessary testing, have the family bring relevant medical records, test results and X-rays to the appointment.
- Services are provided in close cooperation with the patient’s referring physician.
- 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
