Diagnose a broad range of metabolic disorders with a single test, Global MAPS®

Let Global MAPS® guide you to an answer.

Global MAPS® is a large scale, semi-quantitative metabolomic profiling screen that analyzes disruptions in both individual analytes and pathways related to biochemical abnormalities. Using state-of-the-art technologies, Global Metabolomic Assisted Pathway Screen (Global MAPS®) provides small molecule metabolic profiling to identify >700 metabolites in human plasma, urine, or cerebrospinal fluid. Global MAPS® identifies inborn errors of metabolism (IEMs) that would ordinarily require many different tests. This test defines biochemical pathway errors not currently detected by routine clinical or genetic testing.

IEMs are inherited metabolic disorders that prevent the body from converting one chemical compound to another or from transporting a compound in or out of a cell. These processes are necessary for essentially all bodily functions. Most IEMs are caused by defects in the enzymes that help process nutrients, which result in an accumulation of toxic substances or a deficiency of substances needed for normal body function. Making a swift, accurate diagnosis of an IEM and prescribing the appropriate diet or medication is critical in preventing brain damage, organ damage, and even death.

Global MAPS™ is a large scale, semi-quantitative metabolomic profiling screen that analyzes disruptions in both individual analytes and pathways related to biochemical abnormalities. Using state-of-the-art technologies, Global Metabolomic Assisted Pathway Screen (Global MAPS™) provides small molecule metabolic profiling to identify >700 metabolites in human plasma, urine, or cerebrospinal fluid. Global MAPS™ identifies inborn errors of metabolism (IEMs) that would ordinarily require many different tests. This test defines biochemical pathway errors not currently detected by routine clinical or genetic testing.

IEMs are inherited metabolic disorders that prevent the body from converting one chemical compound to another or from transporting a compound in or out of a cell. These processes are necessary for essentially all bodily functions. Most IEMs are caused by defects in the enzymes that help process nutrients, which result in an accumulation of toxic substances or a deficiency of substances needed for normal body function. Making a swift, accurate diagnosis of an IEM and prescribing the appropriate diet or medication is critical in preventing brain damage, organ damage, and even death.

Global MAPS™ is a unique broad screening test that can detect disorders involving metabolism of amino acids, organic acids, fatty acid oxidation, vitamin cofactors, pyrimidine biosynthesis, creatine biosynthesis, and urea cycle metabolism, among other known disorders.

Metabolites range in size and include, but are not limited to:

Global MAPS™ is a unique broad screening test that can detect disorders involving metabolism of amino acids, organic acids, fatty acid oxidation, vitamin cofactors, pyrimidine biosynthesis, creatine biosynthesis, and urea cycle metabolism, among other known disorders.

Metabolites range in size and include, but are not limited to:

Global Metabolomic Assisted Pathway Screen (Global MAPS®)

Test Code

4900

4901

Specimen Type

Plasma

Urine

TAT (Days)

21 21

AUTISM SPECTRUM DISORDER

DEVELOPMENTAL DELAY

VARIANTS OF UNCERTAIN CLINICAL SIGNIFICANCE IN A GENE KNOWN TO BE INVOLVED IN SMALL MOLECULE METABOLISM

FAILURE TO THRIVE

HYPOGLYCEMIA

HYPOTONIA

NON-SYNDROMIC INTELLECTUAL DISABILITY

RECURRENT VOMITING

SEIZURES

SPEECH/LANGUAGE DELAY

UNDIFFERENTIATED PHENOTYPE POSSIBLY RELATED TO PERTURBATION IN A BIOCHEMICAL PATHWAY

Global Metabolomic Assisted Pathway Screen (Global MAPS™)

Test Code

4900

4901

4902

Specimen Type

TAT (Days)

21 21 21
  • null
    Plasma
  • null
    Urine
  • null
    Cerebrospinal Fluid
  • null
    EDTA
    (Purple Top)

AUTISM SPECTRUM DISORDER

DEVELOPMENTAL DELAY

VARIANTS OF UNCERTAIN CLINICAL SIGNIFICANCE IN A GENE KNOWN TO BE INVOLVED IN SMALL MOLECULE METABOLISM

FAILURE TO THRIVE

HYPOGLYCEMIA

HYPOTONIA

NON-SYNDROMIC INTELLECTUAL DISABILITY

RECURRENT VOMITING

SEIZURES

SPEECH/LANGUAGE DELAY

UNDIFFERENTIATED PHENOTYPE POSSIBLY RELATED TO PERTURBATION IN A BIOCHEMICAL PATHWAY

Begin your discovery with Global MAPS®

Specimen Requirements
SAMPLE TYPE REQUIREMENTS SHIPPING CONDITIONS

Plasma

Send 1-2 cc of plasma. Draw blood in an EDTA (purple top) tube(s) and separate plasma as soon as possible, freezing immediately. Store the specimen frozen at -20°C. Specimen may be stored frozen up to 7 days.

Ship frozen sample in insulated container, with 3 -5 lbs. dry ice, by overnight courier.

Urine

Send 3-5 cc of a random urine. Do not add preservatives. Store the specimen frozen at -20°C.

Ship frozen sample in insulated container, with 3 -5 lbs. dry ice, by overnight courier.

Consent Forms
NO CONSENT IS REQUIRED FOR THIS TEST. 

How It Works:

Order appropriate testing for your patient.

The patient’s sample is collected.

The patient’s sample is sent to Baylor Genetics.

Results are sent to the physician.

Discuss the results with the patient.

More questions? Please contact us by calling 1.800.411.4363.

Qin Sun
Sr. Division Director, Biochemical Genetics 
Sarah Elsea
Advisor, Global MAPS
Vernon Reid Sutton
Medical Director, Biochemical Genetics
De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures

Nurit Assia Batzir, Christine M. Eng, Alica M. Goldman, Pranjali K. Bhagwat, Tanya N. Eble, Pengfei Liu, Laurie A. Robak, Fernando Scaglia, Sarah H. Elsea, Shweta U. Dhar, and Michael F. Wangler. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Genome Med 11, 12. Jun 2019 PMID: 30850373

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short-chain enoyl-CoA hydratase deficiency.

Brian J. Shayota, Claudia Soler‐Alfonso, Mir Reza Bekheirnia, Elizabeth Mizerik, Suzy W. Boyer, Rui Xiao, Yaping Yang, Sarah H. Elsea, Fernando Scaglia. Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency. American Journal of Medical Genetics Association. Mar. 2019. PMID: 30848071 

Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling

Kevin E. Glinton, Paul J. Benke, Matthew A. Lines, Michael T. Geraghty, Pranesh Chakraborty, Osama Y. Al-Dirbashi, Yi Jiang, Adam D. Kennedy, Michael S. Grotewiel, V. Reid Sutton, Sarah H. Elsea, Ayman W. El-Hattab. Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Molecular Genetics and Metabolism Reports.  Mar 2018; PMID: 29269105

Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle

Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle. Mol Genet Metab. 2017 Aug;121(4):314-319. Epub 2017 Jun 24. PMID: 28673551

Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism

Kennedy AD, Miller MJ, Beebe K, Wulff JE, Evans AM, Miller LA, Sutton VR, Sun Q, Elsea SH. Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism. Genet Test Mol Biomarkers. 2016 Sep;20(9):485-95. PMID: 27448163

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

Burrage LC, Miller MJ, Wong LJ, Kennedy AD, Sutton VR, Sun Q, Elsea SH, Graham BH. Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016 Feb;169:208-13.e2. PMID: 26602010

Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2015 Nov;38(6):1029-39. PMID: 25875217