Care for metabolic conditions
Our Biochemical Genetics Clinic specializes in evaluating, diagnosing and treating metabolic conditions, such as organic acid disorders, amino acid disorders, fatty acid disorders, mitochondrial disorders and lysosomal storage disorders.
We also serve as a consulting center for Washington State Department of Health Newborn Screening follow-up, providing care for newborns who test positive for certain disorders.
How we help
Our Biochemical Genetics team — a board-certified metabolic geneticist, genetic counselor, nurse practitioner, registered nurse, medical assistant, social worker and clinical nutritionist — help diagnose or rule out metabolic conditions or illnesses.
Services we provide include:
- Condition-specific gene tests or gene panels
- Condition-specific blood or urine tests
- Evaluation for underlying cause of a condition
- Skin biopsies
- Imaging studies
- Appropriate referrals to other specialists
- Follow-up
- Care coordination
- Dietitian access
- Treatment orders as necessary, including but not limited to infusion therapy, special supplements and foods and appointments with other specialists
We also offer continued care and management for a known metabolic condition for children and adults of all ages, including newborns.
Who we help
We serve both children and adults on a referral basis. Possible referrals include patients with abnormal metabolic laboratory results, regression, seizures, failure to thrive, enlarged organs, muscle weakness, change in muscle tone or medical decompensations.
Contact us
For more information about medical genetics care at Mary Bridge Children’s, please call 253-403-3476.