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 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
Shipping and Mailing Address
Biochemical Genetics Laboratory
Duke University Hospital
801 Capitola Drive, Suite 6
Durham, NC 27713
Tel: 919.549.0445
Fax: 919.549.0709
Ship samples by guaranteed overnight courier* to arrive Monday-Friday. WE DO NOT ACCEPT SATURDAY DELIVERIES.
*Do not use U.S. Postal Express as samples may take 3-4 days to arrive and will be unusable.
For inquiries or to request copies of test results, please call the main office: 919.549.0445 and dial 0, 8:00am to 5:00pm EST.
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:
• New Year’s Day
• Martin Luther King Day
• Memorial Day
• Independence Day
• Labor Day
• Thanksgiving Day
• Christmas Day
Mass Spectrometry Laboratory
The Duke Mass Spectrometry Laboratory offers a wide range of assays for diagnosis and monitoring of inborn errors of metabolism including acylcarnitine profile, carnitine level, organic acids, amino acids, creatine and guanidinoacetate levels, S-sulfocysteine analysis, fatty acid in vitro probe, hexose tetrasaccharide (Glc4) analysis, Lyso-Gb3 analysis and urinary glycosaminoglycan (mucopolysaccharides) analysis. Using state-of-the-art technology, the Mass Spectrometry Laboratory has been the site of multiple new innovations in the diagnosis and monitoring of patients with metabolic disorders.
Masss Spectrometry Test Menu
Test Name |
Method |
Sample Types |
CPT Codes |
Acylcarnitine Profile |
MS/MS |
Plasma, serum, DBS or whole blood |
82017 |
Amino Acid Profile |
Ion-exchange HPLC |
Plasma, serum, urine or CSF |
82139 (P,S,C) 82139,82570 (U) |
Carnitine Levels (Free & Total) |
MS/MS |
Plasma, Serum or Urine |
82379 (P,S) 82379,82570 (U) |
Combination Carnitine Levels & Acylcarnitine Profile |
MS/MS |
Plasma or Serum |
82017,82379 |
Creatine / Guanidinoacetate |
LC-MS/MS |
Urine (preferred) and Plasma or Serum |
82542,82540,82570 (U) 82542,82540,82565 (P) |
Lyso-globotriaosylceramide (Lyso-Gb3) |
LC-MS/MS |
Plasma |
82542 |
Methylmalonic Acid |
UPLC-MS/MS |
Plasma or serum |
83921 |
Organic Acids (Qualitative) |
GC-MS |
Urine |
83919,82570 |
S-Sulfocysteine |
UPLC-MS/MS |
Urine |
82131,82570 |
Hex 4 (Glucose tetrasaccharide, Glc4) |
UPLC-MS/MS |
Urine |
82542, 82570 |
Mucopolysaccharides CS, DS, HS, Urine |
UPLC-MS/MS |
Urine |
Contact Lab |
Mucopolysaccharide KS, Urine |
UPLC-MS/MS |
Urine |
Contact Lab |
Mucopolysaccharides Screen CS, DS, HS, KS, Urine |
UPLC-MS/MS |
Urine |
Contact Lab |
Vitamin A & E, Serum |
HPLC |
Serum |
84446 (E), 84590 (A) |
Vitamin A, Serum |
HPLC |
Serum |
84590 (A) |
Vitamin E, Serum |
HPLC |
Serum |
84446 (E) |
Test Request Form:
Send a completed Test Request Form 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.
Specimen Requirements:
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.
STAT Assays
- Requests for STAT assays or emergency STATs (after hours/weekends) must be authorized and approved by laboratory directors: Sarah Young PhD or Ashlee Stiles PhD
Mass Spectrometry Contact Information
Sarah Young, PhD, FACMG
Co-Director
Associate Professor of Pediatrics
sarah.young@duke.edu
Tel: 919-684-4259
Ashlee Stiles, PhD, FACMG
Co-Director
Assistant Professor of Pediatrics
ashlee.stiles@duke.edu
Tel: 919-684-0073
Dwight Koeberl, MD, PhD, FACMG
Medical Director
Professor of Pediatrics
dwight.koeberl@duke.edu Tel: 919-681-9919
Steve Hillman
Laboratory Supervisor
hillm005@mc.duke.edu
Tel: 919-684-0627
GSD/LSD Enzymology Laboratory
The GSD/LSD Enzymology Laboratory specializes in the enzymatic diagnosis of glycogen storage disorders, lysosomal storage disorders and disorders of fructose metabolism utilizing a variety of laboratory methods, including tissue enzyme assays and chemical analysis of glycogen.
GSD/LSD Enzymology Test Menu
Test Name |
Sample Types |
CPT Codes |
GSD Screen • Includes: Glycogen content, Glucose-6-Phosphatase (liver only), Debranching Enzyme, Total Phosphorylase assay • Tests for: GSD types Ia (liver), IIIa (liver and muscle), IIIb (liver), V (muscle), and VI (liver) |
Liver, Muscle |
82657 x 4 |
Glycogen Content And Structure |
Liver, Muscle |
82657 |
GSD Type Ia (Von Gierke) Glucose-6-Phosphatase |
Liver |
82657 |
GSD Type II (Pompe disease, acid maltase deficiency) Acid alpha-Glucosidase |
Whole blood, Dried blood spot, Muscle, Fibroblasts, Amniocytes, Chorionic Villi Cultures |
82657 |
GSD Type II (Pompe disease, acid maltase deficiency) Cross Reactive Immunological Material (CRIM) status |
Fibroblasts |
88372, 88233 |
GSD Type III (Cori / Forbes) Debranching Enzyme |
Liver, Muscle |
82657 |
GSD Type IV (Andersen) Branching Enzyme |
Liver, Muscle, Fibroblasts, Amniocytes, Chorionic Villi Cultures |
82657 |
GSD Type V (McArdle) Muscle Phosphorylase |
Muscle |
82657 |
GSD VI (Hers)* Liver Phosphorylase |
Liver |
82657 |
GSD Type VII (Tarui) Phosphofructokinase |
Muscle |
82657 |
GSD Type IX Phosphorylase b Kinase |
Liver, Whole blood, Muscle, Heart |
82657 |
Fructose Assay Fructose-1-Phosphatase, Fructose 1,6, diphosphatase & Fructose 1-Phosphate Aldolase B |
Liver |
82657 x 3 |
Fabry Disease Alpha-Galactosidase A |
Whole blood, Dried blood spot |
82657 |
Gaucher disease Acid-β-glucosidase |
Whole blood, Dried blood spot |
82657 |
LAL-D (Wolman disease / CESD) Lysosomal acid lipase |
Whole blood, Dried blood spot |
82657 |
MPS I Alpha-L-iduronidase |
Whole blood, Dried blood spot |
82657 |
MPS II Iduronate-2-sulfatase |
Whole blood, Dried blood spot |
82657 |
Test Request Forms
Send a completed test request form for each patient.
- Glycogen Storage Disorders and inherited disorders of fructose metabolism Test Request Form
- Lysosomal Storage Disorders Test Request Form
- DNA Sequencing Test Request Form
Specimen Requirements
For specimen requirements, please refer to the Sample Preparation adn Shipping Infomation.
Molecular Testings
Sequencing analyses for various GSDs and Fabry disease are performed by DUHS Molecular Diagnostics Laboratory and any questions about DNA sequencing assays should be directed to the Duke Molecular Diagnostics Laboratory. If you wish to order DNA sequencing only, please send samples directly to the Molecular Diagnostics Laboratory. If you are ordering DNA sequencing AND additional tests performed by the Glycogen Storage Disease laboratory (e.g. enzyme analysis), you may send all samples to the Glycogen Storage Disease laboratory, and we will forward the sample for sequencing to the Molecular Diagnostics Laboratory.
Send a completed Test Request Form for each patient.
GSD/LSD Enzymology Contact Information
Deeksha Bali, PhD
Director
Professor of Pediatrics
Deeksha.Bali@duke.edu
Tel: 919-684-0025
Dwight Koeberl, MD, PhD, FACMG
Medical Director
Professor of Pediatrics
dwight.koeberl@duke.edu Tel: 919-681-9919
Gwen Dickerson
Medical Laboratory Scientis, Senior
Tel: 919-684-0338