Medical Genetics Test Details
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Global Metabolomic Assisted Pathway Screen (Global MAPS)® | ||
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Test Information: | Metabolomic profiling is a newly-developed, large scale, semi-quantitative +screening +test that looks at perturbations in both individual analytes and pathways related to biochemical abnormalities, including but not limited to amino acid, organic acid, lipid, and nucleotide metabolism. This is a small molecule screen for compounds ranging in size from 75-1000 Da. It should be used as a screening tool for individuals who have an undifferentiated phenotype or as supportive evidence in individuals with equivocal mutations in genes related to metabolic processes. It is not intended to supplant current diagnostic testing for specific conditions nor is it intended for monitoring therapy. Any abnormalities detected on the Metabolomic Profile should be confirmed by diagnostic biochemical or molecular diagnostic testing. This test must be ordered by a physician and must be accompanied by detailed clinical information for the most informative interpretation. The following situations may render Global MAPS results uninterpretable or obscure pathologic findings: Liver failure, kidney failure, dialysis, multi-organ failure, rhabdomyolysis, cancer and treatments with chemotherapy, administration of total parenteral nutrition (TPN), administration of special diets, high-dose vitamins or supplements. In such situations, it is advised to consult with a laboratory director prior to testing. This test is not intended to screen for lysosomal storage disorders, congenital disorders of glycosylation, mucopolysaccharidoses, mucolipidoses, or other similar large molecule disorders. Indications for Testing
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Test Details | ||
Test Code: | 4900 | |
Special Notes: |
This test may enable the identification of new biomarkers associated with specific genetic conditions, as well as biomarkers associated with medications, disease status, and diet-related treatment. We will not analyze microbial findings in this report. Plasma or urine may be sent for this analysis. If more than one sample type is submitted, then each sample will be charged appropriately. To order test on urine samples, please use test code 4901. |
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Technical Information | ||
Methodology: | The Metabolomic Profiling test will identify known metabolites in plasma or urine. The test will analyze hundreds of compounds simultaneously using a combination of LC-MS/MS technologies (>800 compounds are regularly detected in human plasma). Significant abnormalities in metabolic pathways and/or in selected single analytes may be identified. In these situations, we will recommend targeted follow-up testing (molecular and/or biochemical) for confirmation. | |
Test Type: | Analyte Analysis | |
References Values or Ranges: | Metabolites and biomarkers that fall out of the normal range will be reported relative to the general, age-specific population. Individual concentrations will not be reported. |
Sample & Shipping Information | ||
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Test Requisition: | Global Metabolomic Assisted Pathway Screen | |
Specimen Type: | 4900: Plasma | |
Requirements: | Draw blood in a EDTA (purple top) tube(s) and separate as soon as possible, freezing immediately. Send 1-2 cc of plasma. Store the specimen frozen at -20C. Specimen may be stored frozen for up to 7 days. |
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Shipping Conditions: | Ship frozen on 3-5 lbs of dry ice in an insulated container by overnight courier. |
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Specimen Type: | 4901: Urine | |
Requirements: | Send 3-5 cc of a random urine. Do not add preservatives. Store the specimen frozen at -20C. | |
Shipping Conditions: | Ship frozen on dry ice in an insulated container by overnight courier. |
Turn Around Time: | 21 days | |
Billing Information | ||
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List Price: | *For Insurance or Institutional Prices, please call. | |
CPT Codes: | 4900: 82016x1, 82128x1, 82180x1, 82239x1, 82247x1, 82379x1, 82383x1, 82465x1, 82507x1, 82528x1, 82533x1, 82540x1, 82542x1, 82565x1, 82725x1, 82726x1, 82746x1, 82760x1, 82947x1, 82978x1, 83150x1, 83605x1, 83789x1, 83919x1, 83945x1, 84035x1, 84207x1, 84210x1, 84252x1, 84260x1, 84377x1, 84425x1, 84446x1, 84510x1, 84525x1, 84550x1, 84590x1 4901: 81005x1, 82016x1, 82128x1, 82135x1, 82239x1, 82247x1, 82379x1, 82382x1, 82465x1, 82507x1, 82528x1, 82533x1, 82540x1, 82542x1, 82570x1, 82725x1, 82726x1, 82760x1, 82947x1, 82978x1, 83150x1, 83497x1, 83605x1, 83633x1, 83789x1, 83919x1, 83945x1, 84035x1, 84119x1, 84207x1, 84210x1, 84252x1, 84260x1, 84377x1, 84392x1, 84425x1, 84446x1, 84510x1, 84525x1, 84540x1, 84560x1, 84578x1, 84585x1, 84590x1 |