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Diagnostic Test Data

Diagnostic Lab Contacts  
Emory University
Department of Human Genetics
2165 North Decatur Road
Atlanta, GA   30033
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)

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SERN Highlights
December 2017

2018 Annual Meeting for SERN/SERGG - July 19-21 in Asheville, NC

2018 Annual Meeting for SERN/SERGG - July 19-21 in Asheville, NC

The next annual SERN/SERGG meeting will be held July 19-21, 2018 at Renaissance Asheville Hotel in Asheville, NC.

More information available on the SERGG website: http://sergg.org/

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