SERN | Southeast NBS & Genetics Regional Collaborative

Like us on Facebook! Follow SERC_Genetics on Twitter Subscribe to our RSS Feed
Login | Contact Us

COVID-19 is an emerging, rapidly evolving situation.

Diagnostic Test Data

Diagnostic Lab Contacts  
Emory University
School of Medicine
Department of Human Genetics
1365 Clifton Road
Building B Suite 2200
Atlanta, GA   30322
Laboratory director Miao He, PhD
Contact miao.he@emory.edu

Routine assay  
Assay Sample type(s) CPT codes
Amino acids P, U, CSF, FP Plasma & CSF: 80500-52, 82139; Filter Paper: 82136-52; Urine: 80500-52, 82139, 82570
Organic acids    
    Quantitative U 80500-52, 82017
    Qualitative    
Acylcarnitines P 80500-52, 82017
Carnitine P, U 82379-52, 83912-52

Storage disorders  
Assay Sample type / Amount CPT codes
Urine    
Glycosaminoglycans    
    Electrophoresis U, 30-50 ml, minimum 15 ml 80500-52, 82489, 83864, 82570
Urine Oligosaccharides U, 5-10 ml 82570, 83912-52, 84375
     
Enzyme    
Alpha mannosidosis whole blood 5-10 ml 80500, 82657-22
Beta mannosidosis whole blood 5-10 ml 80500, 82657-22
Beta galactosidase whole blood 5-10 ml 80500, 82657-22
Beta fucosidase whole blood 5-10 ml 80500, 82657-22
Beta hexosaminidase whole blood 5-10 ml 80500, 82657-22
Beta glucosidase whole blood 5-10 ml 80500, 82657-22
Alpha glucosidase whole blood 5-10 ml 80500, 82657-22
Arylsulfatase A whole blood 5-10 ml 82657, 80500
Alpha iduronidase whole blood 5-10 ml 80500, 82657-22
Beta glucuronidase whole blood 5-10 ml 80500, 82657-22

Other assays  
Assay Sample type CPT codes
Galactose 1 phosphate whole blood, 5 ml (infants), 10 ml (adult) 83912, 84378
Epimerase (RBC, reflex to lymphoblast if abnormal) whole blood, 5 ml (infants), 10 ml (adult) 80500, 82657-22, 84311, 88230, 82492
GALT (enzyme+isozyme) whole blood, 5 ml (infants), 10 ml (adult) 80500-52, 82664-52, 82775-52, 84311
GALT comprehesive panel whole blood, 5 ml (infants), 10 ml (adult), one green top, one purple top 80500-52, 82664-52, 82775-52, 83891-52, 83894-52, 83900-52, 83901-52(x2), 83914, 84311, 84378-22
urinary galactitol urine, 2-5 ml 82570, 84378, 83912
Biotinidase whole blood 3-5 ml in red top, separate serum immediately and sent frozen sample 82261
  require concurrent un-related normal controls  
Chirotridase whole blood 5-10ml in red top or serum 82657-22, 83912
Orotic acid U 82570, 83912-52, 83921
Gaucher monitor panel-chito, trap, ace whole blood 5-10ml in red top or serum 80500, 82164, 82657-22(x2)

Comments  

Comment or suggestion? Is data missing or incorrect? Please let us know.

Name

Email

Comments

Validation
  + Required

 

SERN Highlights
October 2020

Paper: Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach

Paper:  Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach

We are pleased to announce availability of our new peer-reviewed paper, Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach in Molecular Genetics and Metabolism

The paper may be accessed at the link below:

https://www.sciencedirect.com/science/article/pii/S1096719218303421?via%3SERN

Home | About | Contact Us
This website is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) as part of an award totaling $600,000.00 with 0 percent financed with non-governmental sources. The contents are those of the author(s) and do not necessarily represent the official views of, nor an endorsement, by HRSA, HHS, or the U.S. Government. For more information, please visit HRSA.gov.

© 2006-2017   —   SOUTHEAST REGIONAL GENETICS NETWORK   —   A HRSA SUPPORTED PARTNERSHIP   —   GRANT #UH7MC30772