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.

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