Biochemical Genetics
A Section Of Clinical Pathology
About Biochemical Genetics
The Stanford Biochemical Genetics laboratory diagnoses inborn errors of metabolism (IEMs). IEMs are rare genetic disorders that result from a missing or defective enzyme in the body. Clinical symptoms of IEMs vary widely and can range from very mild to life-threatening.
Testing
Submit a Sample
Our Faculty
The Stanford Biochemical Genetics Service specializes in the diagnosis of inborn errors of metabolism. Our team offers highly specialized testing and interpretation for the diagnosis, monitoring, and clinical care of patients with inborn errors of metabolism, malabsorption and malnutrition disorders.
Results are fully interpreted by an American Board of Medical Genetics and Genomics-certified Clinical Biochemical Geneticist. Stanford’s team of experts provide clear and actionable interpretation of the results for our patients and clients.
Stanford’s biochemical genetics team routinely performs qualitative detection and quantitative determination of diagnostic biomarkers based on a variety of chromatographic methods including high-performance liquid chromatography (HPLC), gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-tandem mass spectrometry (LC-MS/MS). Urine screening for lysosomal storage disorders and enzymatic testing for Biotinidase deficiency are also performed.
We provide a full range of Biochemical Genetics testing services for both pediatric and adult samples.
Test Directory
Learn more about our Biochemical Genetics testing.
Sample Submission
All specimens must be accompanied by a Stanford requisition and all samples must be labeled with the patient’s name, and at least one other unique identifier.
Proper specimen collection is vital to ensuring an accurate test result. Please refer to the individual test listing in the Test Directory for collection requirements.
Shipping
Samples should be shipped or delivered via courier to:
Stanford Clinical Laboratories
3375 Hillview Avenue
Palo Alto, CA 94304
Customer Service Phone: 1-877-717-3733
New Client Inquiries
To arrange to be set up as a new client, please contact:
ClinOpsContracts@stanfordhealthcare.org.
Contact Us
To submit a sample to Biochemical Genetics, please complete a requisition and send with sample to:
Stanford Clinical Laboratories
Attn: Specimen Processing
3375 Hillview Avenue
Palo Alto, CA 94304
Fax: (650) 724-1567
Customer Service Phone:
1-877-717-3733
Medical Directors:
Tina Cowan, PhD
Kristina Cusmano-Ozog, MD
To arrange to be set up as a new client, please contact:
ClinOpsContracts@
stanfordhealthcare.org
SAMPLE SUBMISSION LOGISTICS
For more information on submitting cases, see the links below:
All Requisitions
Download Stanford Requisitions for specimen submission.
Account Set-up
Information on personalized requisitions, supplies, shipping and courier pick-up.
Pricing Inquiries
Pricing inquiries and contract information.
Billing
Billing policies, information and questions.
Results Web Portal
Request access or log-in to our client results portal.
Specimen Collection and Handling
Specifications for Specimen Collection and Handling.
Consult Service FAQ's
Get answers to Frequently Asked Questions.
Tina Cowan, PhD
APPOINTMENTS
- Professor of Pathology and, by courtesy, Pediatrics (Medical Genetics)
- Co-Director, Clinical Biochemical Genetics Laboratory
PRACTICE AREAS
- Pathology and Laboratory Medicine
- Clinical Biochemical Genetics
CONTACT
Email: tcowan@stanford.edu
Phone: (650) 724-7858
More information about Tina Cowan:
https://med.stanford.edu/profiles/tina-cowan
Kristina Cusmano-Ozog, MD
APPOINTMENTS
- Clinical Associate Professor of Pathology
- Co-Director, Clinical Biochemical Genetics Laboratory
PRACTICE AREAS
- Pathology and Laboratory Medicine
- Clinical Biochemical Genetics
CONTACT
Email: kcusmano@stanford.edu
Phone: (650) 736-7976
More information about Kristina Cusmano-Ozog:
https://med.stanford.edu/profiles/kristina-cusmano-ozog
The Stanford Biochemical Genetics Service specializes in the diagnosis of inborn errors of metabolism. Our team offers highly specialized testing and interpretation for the diagnosis, monitoring, and clinical care of patients with inborn errors of metabolism, malabsorption and malnutrition disorders.
Results are fully interpreted by an American Board of Medical Genetics and Genomics-certified Clinical Biochemical Geneticist. Stanford’s team of experts provide clear and actionable interpretation of the results for our patients and clients.
Stanford’s biochemical genetics team routinely performs qualitative detection and quantitative determination of diagnostic biomarkers based on a variety of chromatographic methods including high-performance liquid chromatography (HPLC), gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-tandem mass spectrometry (LC-MS/MS). Urine screening for lysosomal storage disorders and enzymatic testing for Biotinidase deficiency are also performed.
We provide a full range of Biochemical Genetics testing services for both pediatric and adult samples.
Test Directory
Learn more about our Biochemical Genetics testing.
close Testing
Sample Submission
All specimens must be accompanied by a Stanford requisition and all samples must be labeled with the patient’s name, and at least one other unique identifier.
Proper specimen collection is vital to ensuring an accurate test result. Please refer to the individual test listing in the Test Directory for collection requirements.
Shipping
Samples should be shipped or delivered via courier to:
Stanford Clinical Laboratories
3375 Hillview Avenue
Palo Alto, CA 94304
Customer Service Phone: 1-877-717-3733
New Client Inquiries
To arrange to be set up as a new client, please contact:
ClinOpsContracts@stanfordhealthcare.org.
Contact Us
To submit a sample to Biochemical Genetics, please complete a requisition and send with sample to:
Stanford Clinical Laboratories
Attn: Specimen Processing
3375 Hillview Avenue
Palo Alto, CA 94304
Fax: (650) 724-1567
Customer Service Phone:
1-877-717-3733
Medical Directors:
Tina Cowan, PhD
Kristina Cusmano-Ozog, MD
To arrange to be set up as a new client, please contact:
ClinOpsContracts@
stanfordhealthcare.org
SAMPLE SUBMISSION LOGISTICS
For more information on submitting cases, see the links below:
All Requisitions
Download Stanford Requisitions for specimen submission.
Account Set-up
Information on personalized requisitions, supplies, shipping and courier pick-up.
Pricing Inquiries
Pricing inquiries and contract information.
Billing
Billing policies, information and questions.
Results Web Portal
Request access or log-in to our client results portal.
Specimen Collection and Handling
Specifications for Specimen Collection and Handling.
Consult Service FAQ's
Get answers to Frequently Asked Questions.
close Submit a Sample
Tina Cowan, PhD
APPOINTMENTS
- Professor of Pathology and, by courtesy, Pediatrics (Medical Genetics)
- Co-Director, Clinical Biochemical Genetics Laboratory
PRACTICE AREAS
- Pathology and Laboratory Medicine
- Clinical Biochemical Genetics
CONTACT
Email: tcowan@stanford.edu
Phone: (650) 724-7858
More information about Tina Cowan:
https://med.stanford.edu/profiles/tina-cowan
Kristina Cusmano-Ozog, MD
APPOINTMENTS
- Clinical Associate Professor of Pathology
- Co-Director, Clinical Biochemical Genetics Laboratory
PRACTICE AREAS
- Pathology and Laboratory Medicine
- Clinical Biochemical Genetics
CONTACT
Email: kcusmano@stanford.edu
Phone: (650) 736-7976
More information about Kristina Cusmano-Ozog:
https://med.stanford.edu/profiles/kristina-cusmano-ozog
close Our Faculty
Residencies and Fellowships
Clinical Biochemical Genetics Training Program »
Stanford offers ACGME-accredited training in Clinical Biochemical Genetics.