medgenetics.pediatrics.duke.edu  
Division of Medical Genetics
 

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, fatty acid in vitro probe, and Hex4 analysis.  The laboratory also offers DNA analysis for fatty acid oxidation disorders. 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.
 
Test Request Form
Submit this form when ordering tests performed in the Mass Spectrometry Laboratory. Please complete all sections of the form, including the clinical information to expedite the interpretation of results. More>>

Tests Offered
Read the specifics about each test offered in the Mass Spectrometry Laboratory including clinical utility, analytic methods, sample requirements, and CPT codes. More>>

Test Ordering and Shipping Information
Find information about sample requirements, ordering stat assays, and shipping. More>>
 
CPT Codes
Follow this link for a comprehensive list of CPT codes for tests performed in the Mass Spectrometry Laboratory. More>>

Find a list of our laboratory certifications by the College of American Pathologists (CAP), Joint Commision (JCAHO), Health Care Finance Adminstration (HCFA or CLIA) and find our federal tax ID number. More>>
 
Client Survey
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Laboratory Contact Information
Mass Spectrometry Laboratory
 
Biochemical Genetics Laboratory
 
Duke University Medical Center
 
801 Capitola Drive, Suite 6
 
Durham, NC 27713

Tel: 919-549-0445
Fax: 919-549-0709
Email Contact Form

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
 
 
 
David Millington, PhD,
Director
milli014@mc.duke.edu
 
Sarah Young, PhD
Research Scientist, Sr
young116@mc.duke.edu
 
Steve Hillman, BS
Laboratory Manager
hillm005@mc.duke.edu
             

 

 



 
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Contact Information
Division Offices
595 LaSalle Street
4th Floor, GSRBI
Box 103856 DUMC
Durham, NC 27710
919-684-2036
Fax: 919-684-8944
 
General Information
Dianne Frazier
919-684-2036

Laboratory Services
Fax: 919-549-0709  
 
Clinics
General Genetics Clinic
Appointments and Information: 
919-684-2036, option 1 or
919-668-4000 
 
Metabolic Clinic
Appointments and Information: 
919-684-2036, option 2
 
Autism/Medical Genetics
Appointments and Information: 
919-684-2036, option 1

Cardiovascular Genetics Clinic
Appointments: 919-668-4000
Information: 919-668-2196
 
Down Syndrome Clinic
Appointments and Information:
919-684-0307 or
919-681-1976
 
Fragile X Clinic
Appointments and Information: 
919-668-4468 or
919-668-4000 
 
Marfan/Connective Tissue Disorders Clinic
Appointments: 919-668-4000
Information: 919-668-2196

22q11 Deletion Syndrome Clinic

Appointments: 919-681-2524
Information: 919-684-2036
 
Neurometabolic Clinic
Appointments and Information:
Contact the Division of Neurology

Urgent Calls
Pediatric Geneticist on call 24/7:
919-684-8111, ask for pager 919-970-2200

Dietician
Anne Boney, MEd, RD, LDN 
919-681-1932 
boney002@mc.duke.edu

Prescriptions
Contact your treating physician.
If unavailable, contact the Pediatric Geneticist on call (above) 



 
 
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