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Diagnostic Test Data

Diagnostic Lab Contacts  
University of Alabama at Birmingham
Department of Human Genetics
1530 3rd Ave S
Birmingham, AL   35233-1610
Laboratory director Daniel Sharer, Ph.D.
Email dsharer@genetics.uab.edu
Phone 205-996-4799

Routine assay  
Assay Sample type(s) CPT codes
Amino acids plasma, urine, CSF 82139, 82570
Quantitative urine, plasma 82570, 83918, 83919, 82541
Acylcarnitines plasma 82017, 82544, 83789
Carnitine plasma 82379
     
   Metabolites for quantitative organic acids: Lactic Acid
    Glycolic Acid
    Glyoxylic Acid
    Oxalic Acid
    Pyruvic Acid
    3-OH-butyric Acid
    2-ketoisovaleric Acid
    Acetoacetic Acid
    2-keto-3-methylvaleric Acid
    Ethylmalonic Acid
    2-ketoisocaproic Acid
    Succinic Acid
    Fumaric Acid
    Glutaric Acid
    3-methylglutaric Acid
    Adipic Acid
    5-oxoproline
    2-OH-glutaric Acid
    3-OH-3-methylglutaric Acid
    2-ketoglutaric Acid
    p-OH-phenylacetic Acid
    Suberic Acid
    cis-Aconitic Acid
    Citric Acid
    Sebacic Acid
    p-OH-phenyllactic Acid
    p-OH-phenylpyruvic Acid
    Methylmalonic Acid
    Succinylacetone

Storage disorders  
Assay Sample type CPT codes
Urine    
Electrophoresis urine 82664
Quantitative urine 83864, 82486, 82485, 82491
Urine Oligosaccharides urine 84375
Enzyme    
Alpha mannosidosis fibroblasts, WBC 84311
Beta mannosidosis fibroblasts, WBC, serum 84311
Beta galactosidase fibroblasts, WBC 84311
Alpha fucosidase fibroblasts, WBC, serum 84311
Beta hexosaminidase fibroblasts, WBC, serum 83080
Beta glucosidase fibroblasts 84311
Alpha glucosidase fibroblasts 82963
Alpha galactosidase fibroblasts, WBC 84311
Arylsulfatase A serum 82657
Alpha iduronidase fibroblasts, WBC 84311
Iduronate 2 sulfatase fibroblasts, WBC, serum 82658, 82657
Heparan sulfamidase fibroblasts 82658, 84311
N acetyl alpha D glucosaminidase fibroblasts 82657
Acetyl CoA:glucosaminidase acetyl transferase fibroblasts 82658, 82657
N acetyl glucosamine 6 sulfatase fibroblasts 82657
N acetyl galactosamine 6 sulfatase fibroblasts 82657
Beta glucuronidase fibroblasts, WBC 84311
Alpha neuraminidase fibroblasts 82657
I cell screen urine 82486

Other assays  
Assay Sample type CPT codes
Urine sialic acid urine 82657
Polyols urine 82544, 82570, 82541, 83789

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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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