Biochemical Genetics

Refer a Patient

How to Refer a Patient

If you are unsure whether to refer your patient, please call our Clinical Intake Nurses at 206-987-2080, option 4.

Appointment availability

Updated April 2024.

We are accepting new referrals. New patients will need a referral to be seen. Infants referred for an abnormal newborn screen will be seen promptly.

Referral requirements

Please submit a referral that is complete. This helps us schedule your patient’s appointment in a timely manner and ensure their first visit is smooth and productive.

Please include:

Service/specialty clinic requested
Reason for referral: what is the clinical question for the specialist?
If the referral is urgent (see within 4 weeks) or routine (next available)
ICD-10 diagnosis – required
Visit type:
- New patient consult, transfer of care, second opinion or return visit/ongoing care
ALL relevant clinical documents
- Clinic notes
- Genetic test results
- Information about family history and family members relevant to the disorder (including family members’ relevant genetic tests if available)
- Medication history
- Growth charts/curves
- Biochemical screening and lab reports*
- Imaging and diagnostic reports (images can be uploaded to PowerShare)
- Previous specialty evaluations
Patient’s full name, DOB, sex, address, guardian contact information and insurance
Referring provider’s name, phone, fax and the referral coordinator’s email address so that we may contact you if additional information is needed
Preferred clinic location
If an interpreter is needed
Any known barriers to performing a successful telehealth (video) visit with the family

Please note:

Newborn screens: When referring a newborn for an abnormal newborn screening report, please include the screening report(s).
- For questions about a newborn screening report, please contact the Newborn Screen Lab at the Washington State Department of Health (DOH) at 206-418-5410.
- DOH also offers excellent provider resources, including a Healthcare Provider Manual (see page 11 of the manual for information on how abnormal results are handled).
- You may also call Seattle Children’s Provider-to-Provider Line at 206-987-7777 and ask to speak with the biochemical genetics doctor on call.
MTHFR: We do not accept referrals for the common polymorphisms, but we do see patients with homocystinuria due to MTHFR mutations. For more information, see MTHFR: ACMG Practice Guideline: Lack of Evidence for MTHFR Polymorphism Testing (Genetics in Medicine).
Mitochondrial disease: We see patients through age 20. Please refer patients 21 and older to the Biochemical Genetics Clinic at the University of Washington, 206-598-1800.
Autism and developmental delays: Patients with isolated autism or developmental delays who require a genetics workup should be referred to Medical Genetics. Medical Genetics will refer back to us if appropriate.
Wilson disease: These patients are seen by Dr. Sihoun Hahn, and initial visits are 60 to 90 minutes. There are specific referral requirements for Wilson disease. Please submit the following with your referral:

- 24-hour urine copper
- CBC with differential
- Lipid panel
- Serum copper
- Ceruloplasmin
- Liver function labs:
  - APTT
  - PT INR
  - AST
  - ALT
  - Alkaline phosphatase
  - Albumin
  - Total protein
  - Alpha-fetoprotein
  - Bilirubin (conjugated and unconjugated)
  - Gamma glutamyltransferase
- If you have a report from a liver biopsy and/or notes from a hepatology or psychiatric evaluation, abdominal ultrasound, complete liver elastography or slit lamp eye exam looking for Kayser-Fleischer rings, those would also be helpful to send with the referral.
Congenital disorders of glycosylation (CDG): If you are considering referring for CDG, please call our Provider-to-Provider Line and ask to speak with someone on our team. It’s a more complicated referral, and we want to give you support. These patients are seen by Dr. Lam, and initial visits are 90 minutes.
Do not send your patient’s whole chart; please send only notes and documentation specifically relevant to the disorder.

*Biochemical screening and lab reports: You don’t need to collect the following labs prior to referring a child to our clinic. However, if you have done any of these labs, we would appreciate receiving them with the referral.

Labs: common

- Albumin
- Alkaline phosphatase
- ALT
- Ammonia
- APTT
- AST
- Betahydroxybutyrate
- Bilirubin (conjugated and unconjugated)
- Blood urea nitrogen
- Calcium ionized
- Calcium total
- Ceruloplasmin
- Creatine kinase (CPK)
- Creatinine
- Electrolytes/complete metabolic panel
- Gamma glutamyltransferase
- Glucose
- Lactic acid
- Lipid profile
- Magnesium
- Phosphorus
- Prealbumin
- Serum copper
- Triglycerides
- Uric acid

Labs: specialized

- Acylcarnitine profile
- Carbohydrate deficient transferrin
- Carnitine (free and total)
- Galactose 1 phosphate
- Galactose 1 phosphate uridyltransferase
- Lysosomal enzyme testing
- Maple syrup urine disease panel
- Phenylalanine, tyrosine quant.
- Pipecolic acid
- Plasma amino acid
- Plasma creatinine guanidinoacetate
- Urine organic acids
- Serum methylmalonic acid
- Total homocysteine
- Very long chain fatty acid

Submit a referral

New Appointment Request Form (PDF) (DOC)
Step-by-step guide to submitting a referral
New Patient Referral FAQ

If imaging studies (CT, MRI, X-rays) have been done, please upload to PowerShare or mail a disc to:

MS OC.6.820
PO Box 5371
Seattle, WA 98145-5005

Please call our Clinical Intake Nurses if you need assistance: 206-987-2080, option 1.

We’re committed to partnering with you

We are always available to answer questions and support your care of your patients.

Diagnosis and treatment options: call 206-987-7777 (Provider-to-Provider Line)
Referring or transporting a patient to our Emergency Department or Urgent Care: call 206-987-8899 or, toll free, 866-987-8899 (ED Communications Center)
Questions about scheduling and referrals, including locating or expediting a referral: call 206-987-2080 (Clinical Intake Nurses)

Learn more about managing your patients at Seattle Children's, including viewing your patient’s records.

Meet the Biochemical Genetics team.

Our locations include Seattle, Bellevue and Spokane. See our locations.

What Your Patients Can Expect

Initial visits are always in person, except for genetic counseling appointments, which may be via telehealth. Visits for follow-up can be via telehealth.
Initial visits are typically 60 minutes, except for CDG and Wilson disease patients, whose visits are 90 minutes.
We are a multidisciplinary team that includes physicians, genetic counselors, nurses, dietitians and social workers, any of whom may be at the initial appointment depending on the patient’s indication.
Find resources for patients and families on many topics on our Patient and Family Resources page.