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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
October 2017

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

FDA permits marketing of first newborn screening system for detection of four, rare metabolic disorders

The U.S. Food and Drug Administration today permitted marketing of the Seeker System for the screening of four, rare Lysosomal Storage Disorders (LSDs) in newborns. The Seeker system is designed to detect Mucopolysaccharidosis Type I (MPS I), Pompe , Gaucher and Fabry . It is the first newborn screening test permitted to be marketed by the FDA for these disorders.

LSDs are a group of rare, inherited metabolic disorders in which enzymes (proteins) that normally eliminate unwanted substances in the body's cells are not at normal levels or functioning properly. According to the U.S. Department of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children, MPS I, Pompe, Gaucher and Fabry occur in approximately 1 in 1,500 to no more than 1 in 185,000 newborns and children, depending on the disorder. If not detected and treated in a timely manner, these disorders may cause organ damage, neurological disability or death.
 
"The Secretary of HHS recently added Pompe and MPS I to the list of routine recommended newborn screening programs and it is anticipated that additional states will begin requiring use of screening tests to detect these disorders," said Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health. "Accurate screening tests will help with early detection, treatment and control of these rare disorders in newborns, before permanent damage occurs. That's why availability of LSD screening methods that have been assessed for accuracy and reliability by the FDA are so important."
 
Several states currently mandate LSD screening in all newborns, including Arizona, Illinois, Kentucky, Michigan, Missouri, New Jersey, New Mexico, New York, Ohio, Pennsylvania and Tennessee. However, until today there were there were no FDA-authorized devices for screening of these disorders. Availability of the Seeker System provides laboratories with a screening tool that has been reviewed by the FDA for clinical and analytical validity.
 
The Seeker System, consisting of the Seeker LSD Reagent Kit- IDUA|GAA|GBA|GLA and Seeker Instrument, works by measuring the activity level of proteins required for healthy lysosomal storage found in dried blood samples collected from the prick of a newborn's heel 24 to 48 hours after birth. The Seeker Instrument is a device that automates the analysis of dried blood spots. Reduced enzyme activity of proteins associated with any of the four LSDs detected by the kit may indicate presence of a disorder. Results showing reduced enzyme activity must be confirmed using other testing methods, such as biopsies, genetic and other laboratory tests.
 
The FDA reviewed the data for the Seeker System through the de novo premarket review pathway, a regulatory pathway for devices of a new type with low-to-moderate-risk that are not substantially equivalent to an already legally marketed device and for which special controls can be developed, in addition to general controls, to provide a reasonable assurance of safety and effectiveness of the devices. During this process, the FDA evaluated data from a clinical study of 154,412 newborns in Missouri whose dried blood samples were tested for protein activity associated with MPS I, Pompe, Gaucher and Fabry. Efficacy was determined because the system was able to accurately identify at least one of each of these four LSDs in 73 of the screened newborns.
 
Risks associated with use of the screening system include false negative findings. As part of this study, the Missouri State Public Health Laboratory conducted active surveillance of four of the state's metabolic clinical centers for new diagnoses of these disorders. The state laboratory's surveillance activities extended 15 months following the study's completion to determine cases of false negatives that had not been identified during the study. No false negative results were identified either through the study or the state's 15-month surveillance program.
 
The Seeker System was created with funding from the Small Business Innovation Research program in National Institutes of Health's Eunice Kennedy Shriver National Institute of Child Health and Human Development. It is manufactured by Baebies Inc., located in Durham, North Carolina.
 
The FDA, an agency within the U.S. Department of Health and Human Services, promotes and protects the public health by, among other things, assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation's food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.
 
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JELILI OJODU, MPH | Director, Newborn Screening and Genetics
Association of Public Health Laboratories | Analysis. Answers. Action.
P +1 240.485.2772 | F +1 240.485.2700 | jelili.ojodu@aphl.org
 
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