Medical Genetics Test Details
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|Global Metabolomic Assisted Pathway Screen (Global MAPS)SM|
|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 50-1500 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.
Patient should NOT be on TPN, special diet, dietary supplements, or drug therapies for most accurate results.
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
- Individual with an undifferentiated phenotype suspected to be related to perturbation in a biochemical pathway (e.g. child with developmental delay, seizures, autism, etc.)
- Individual with equivocal molecular test results in a gene known to be involved in small molecule metabolism
- Use of this test in combination with exome analysis may be most beneficial in more difficult cases or in cases where a small molecule inborn error of metabolism is suspected
- Screening for disorders for which specific small molecule metabolite testing is not currently available
While 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 report xenobiotics, plant biproducts, or microbial findings in this report.
Plasma or Cerebrospinal Fluid 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 cerebrospinal fluid samples, please use test code 4902.
|Methodology:||The Metabolomic Profiling test will identify known metabolites in plasma or cerebrospinal fluid. 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|
|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.
|Shipping Conditions:||Ship frozen on 3-5 lbs of dry ice in an insulated container by overnight courier.
|Specimen Type:||4902: Cerebrospinal fluid|
|Requirements:||Send 1-2 cc of cerebrospinal fluid. Store the specimen frozen at -20 C. Specimen may be stored frozen for up to 7 days.
|Shipping Conditions:||Ship frozen on 3-5 lbs dry ice in an insulated container by overnight courier.
|Turn Around Time:||21 days|
|List Price:||*For Insurance or Institutional Prices, please call.|
|CPT Codes:||4900: 82016 x 1, 82128 x 1, 82160 x 1, 82180 x 1, 82239 x 1, 82247 x 1, 82465 x 1, 82507 x 1, 82528 x 1, 82533 x 1, 82540 x 1, 82565 x 1, 82725 x 1, 82726 x 1, 82746 x 1, 82760 x 1, 82947 x 1, 82978 x 1, 83150 x 1, 83491 x 1, 83497 x 1, 83605 x 1, 83788 x 22, 83919 x 1, 83945 x 1, 84035 x 1, 84207 x 1, 84210 x 1, 84252 x 1, 84260 x 1, 84377 x 1, 84550 x 1 4902: 82009 x 1, 82016 x 1, 82128 x 1, 82160 x 1, 82239 x 1, 82507 x 1, 82528 x 1, 82533 x 1, 82540 x 1, 82570 x 1, 82725 x 1, 82726 x 1, 82760 x 1, 83150 x 1, 83497 x 1, 83605 x 1, 83788 x 22, 83919 x 1, 83945 x 1, 84035 x 1, 84207 x 1, 84210 x 1, 84260 x 1, 84377 x 1, 84560 x 1|