DUHS Biochemical Genetics Laboratory

The DUHS Biochemical Genetics Laboratory is comprised of two closely integrated sections, the Mass Spectrometry Laboratory and the GSD/LSD Enzymology Laboratory, that specialize in the diagnosis and monitoring of patients with numerous inborn errors of metabolism, lysosomal storage disorders, glycogen storage disorders and disorders of fructose metabolism.

• The Duke Mass Spectrometry Section offers core metabolic (urine organic acids, acylcarnitines, amino acids, and plasma carnitine) and targeted analyte testing for the diagnosis and monitoring of patients with inborn errors of metabolism. Using state-of-the-art technology, the Mass Spectrometry Section has been the site of multiple new innovations in the diagnosis and monitoring of patients with metabolic disorders.
• The GSD/LSD Enzymology Section specializes in the enzymatic diagnosis of disorders of glycogen storage, lysosomal storage, and fructose metabolism utilizing a variety of laboratory methods, including tissue enzyme assays and chemical analysis of glycogen.

The Biochemical Genetics Laboratory is CAP and CLIA certified and is staffed by highly trained, licensed professionals and laboratory professionals. The laboratory utilizes the latest advances in diagnostic technologies to provide physicians with an extensive menu of biochemical and enzymatic assays. The laboratories work closely with the division of medical genetics board-certified medical geneticists and genetic counselors to ensure timely interpretation of laboratory results for health care professionals and their patients.

Details about all of the tests performed by the Biochemical Genetics Laboratory can be found here: Test Catalog: BCG and here: Test List (PDF): BCG

Laboratory Accreditations and Licenses

The DUHS Biochemical Genetics Laboratory is committed to providing the highest quality testing with highly trained staff, licensed professional and laboratory personnel.  The laboratory holds the following current certifications of accreditation and licensure:

CAP Certificate of Accreditation 
CLIA Certificate of Accreditation 
State of California, Department of Public Health Clinical Laboratory License 
State of Maryland, Department of Health and Mental Hygiene Certificate of Accreditation 
Pennsylvania Department of Health Certificate of Accreditation 

Hours of Operation

Monday – Friday: 8:00 a.m. to 5:00 p.m.

The laboratory is closed on weekends and on Duke University Hospital recognized holidays:

Shipping and Mailing Address

Shipping and Mailing Address Monday to Friday, 8 am to 5 pm

Biochemical Genetics Laboratory, 801 Capitola Drive, Suite 6, Durham, NC 27713
Main Office Phone: (919) 549-0445; Fax: (919) 549-0709
Contact email: BCG_AllStaff@duke.edu

Note: WE DO NOT ACCEPT SATURDAY DELIVERIES At THIS ADDRESS.
Do not use U.S. Postal Express as samples may take 3-4 days to arrive and will be unusable.

Urgent Requests

Requests for STAT assays or emergency STATs (after hours/weekends) must be approved by the laboratory directors. Please contact the lab at: BCG_AllStaff@duke.edu

Shipping address for sending urgent samples outside of regular lab hours, Weekends DUHS Central Automated Laboratory (DCAL), Attention: Specimen Management Hudson Bldg., DCAL, Rm 1520, 2351 Erwin Rd, Durham, NC 27705 Contact number: (919) 668-9316, Hours of Operation (24/7)

Note: Sending urgent samples outside of regular hours requires prior discussion with and approval by the laboratory directors. Please contact the Biochemical Genetics Lab at: BCG_AllStaff@duke.edu

Inquiries and Test Results

For inquiries or to request copies of test results, please call the main office: (919) 549-0445 and dial 0, 8:00 am to 5:00 pm EST.

Test Request Forms and Specimen Requirements

Send a completed Test Request Forms for each patient. Please be sure to include the following:

• Clinical information to facilitate interpretation of results.
• Billing information: We do not bill patients or their insurance companies. The referring institution is responsible for charges incurred by the tests requested. 

For specimen requirements, please refer to the Sample and Shipping information for each specific test.

• Label each specimen clearly with the patient’s name and date of birth.
• Package each specimen in a separate Ziploc bag.
• Please include the name and telephone number of the person packaging and sending the sample.

Mass Spectrometry Section

Test Request Form

Sample and Shipping Information

GSD/LSD Enzymology Section

Glycogen Storage and Fructose Disorders Test Request Form

Lysosomal Storage Disorders Test Request Form

Sample Requirements and Preparation

Shipping Information 

Molecular Tests

Sequencing analyses for various GSDs and LSDs are performed by DUHS Molecular Diagnostics Laboratory. For questions related to these tests, please contact (919) 684-2698.

If you wish to order DNA sequencing only, please send samples directly to the Molecular Diagnostics Laboratory.

If you are ordering DNA sequencing AND tests performed by the Glycogen Storage Disease section (e.g. enzyme analysis), you may send all samples to the Biochemical Genetics Laboratory, and we will forward the sample for sequencing to the Molecular Diagnostics Laboratory.

Laboratory Contact Information

LABORATORY MANAGER AND DIRECTORS:

Scott A. Chasse, Ph.D.

Lab Manager

919-684-0627

scott.chasse@duke.edu

Deeksha Bali, PhD, FACMG

Co-Director

919-684-0025

deeksha.bali@duke.edu

Ashlee Stiles, PhD, FACMG

Co-Director

919-684-0073

ashlee.stiles@duke.edu

Sarah Young, PhD, FACMG

Co-Director

919-684-4259

sarah.young@duke.edu

Dwight Koeberl, MD, PhD, FACMG

Medical Director

919-681-9919

dwight.koeberl@duke.edu

GENERAL INQUIRIES:

Contact email: BCG_AllStaff@duke.edu

GLYCOGEN STORAGE DISEASE (GSD) LAB:

For information on testing performed by the Duke Enzyme and Glycogen Storage Disease Section of DUHS Biochemical Genetics Lab please call the main laboratory number, (919) 549-0445, and select option #2 for the GSD laboratory.