Screening & Monitoring


Screening and monitoring for metabolic disorders

screening and monitoring

Our comprehensive biochemical testing menu offers a multitude of genetic testing options paired with advanced biochemical assays, such as enzyme analysis and biochemical analyte testing including metabolic profiles, enzyme analysis, disease monitoring, and more. We offer healthcare providers with the necessary tools and options to accurately diagnose and treat metabolic and biochemical conditions. Trust us to deliver reliable and efficient testing services to help ensure the best possible outcomes for your patients.

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Testing options

Biochemical Testing (33)
ACID Alpha-Glucosidase Enzyme Analysis
Test Code B0019
Turn Around Time 12 days
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ACID Sphingomyelinase Enzyme Analysis
Test Code B0017
Turn Around Time 3 days
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Acylcarnitine Profile
Test Code B0210
Turn Around Time 3 days
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Alpha-Galactosidase A Enzyme Analysis
Test Code B0007
Turn Around Time 3 days
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Alpha-L-Iduronidase Enzyme Analysis
Test Code B0013
Turn Around Time 3 days
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Amino Acid Profile
Test Code B2020
Turn Around Time 3 days
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Arylsulfatase B Enzyme Analysis
Test Code B0016
Turn Around Time 3 days
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Beta-galactosidase Enzyme Analysis
Test Code B0025
Turn Around Time 3 days
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Beta-glucuronidase Enzyme Analysis
Test Code B0026
Turn Around Time 3 days
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Biotinidase Deficiency Enzyme Analysis (Complete/Partial)
Test Code B0001
Turn Around Time 3 days
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Duchenne Muscular Dystrophy Creatine Kinase Activity
Test Code B0006
Turn Around Time 3 days
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Galactocerebrosidase Enzyme Analysis
Test Code B0012
Turn Around Time 3 days
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Galactosamine-6-Sulfatase Enzyme Analysis
Test Code B0015
Turn Around Time 3 days
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Galactosemia Monitoring
Test Code B0009
Turn Around Time 3 days
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Globotriaosylsphingosine (lyso-Gb3) Monitoring
Test Code B0029
Turn Around Time 3 days
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Glucocerebrosidase (Glucosylceramidase) Enzyme Analysis
Test Code B0010
Turn Around Time 3 days
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Glucose-6-phosphate Dehyrogenase Deficiency (screening only)
Test Code B0011
Turn Around Time 3 days
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Glucosylsphingosine (lyso-Gb1) Monitoring
Test Code B0030
Turn Around Time 3 days
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Iduronate 2-Sulfatase Enzyme Analysis
Test Code B0014
Turn Around Time 3 days
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IRT Analysis (Not valid after 90 days of age)
Test Code B0005
Turn Around Time 3 days
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Lysosomal Storage Disease 6-plex Enzyme Panel
Test Code B2040
Turn Around Time 3 days
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Lysosomal Storage Disease 7-plex Enzyme Panel
Test Code B2041
Turn Around Time 3 days
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PKU Monitoring
Test Code B0018
Turn Around Time 3 days
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Post Mortem - Includes: 17-Hydroxyprogesterone, Acylcarnitines, Galactose, and TSH
Test Code B0024
Turn Around Time 3 days
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Psychosine Biochemical Assay
Test Code B0028
Turn Around Time 3 days
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Severe Combined Immunodeficiency - TREC Assay
Test Code D0416
Turn Around Time 3 days
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Sickle Cell & other Hemoglobinopathies
Test Code B0020
Turn Around Time 3 days
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Succinylacetone (SUAC) Analysis
Test Code B0021
Turn Around Time 3 days
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Test of Biomarker of Fabry Disease (Lyso-GL-3)
Test Code LB
Turn Around Time 7 days
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Test of Biomarker of Gaucher Disease (Lyso-GL-1)
Test Code LG
Turn Around Time 7 days
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Tripeptidyl peptidase 1 Enzyme Analysis
Test Code B0027
Turn Around Time 3 days
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Tyrosinemia Monitoring
Test Code B0022
Turn Around Time 3 days
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X-Linked Adrenoleukodystrophy - C26:0 Lysophosphatidylcholine
Test Code B0023
Turn Around Time 3 days
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How to order

Step 1

Test selection and place order

Step 2

Specimen collection

Step 3

Sample shipment
Learn more

How to order

1. Choose your test

Select the correct test for your patient and fill out the General Test Requisition Form.

  • Please make sure that all sections are completed, and that the patient has signed an informed consent form.
2. Collect a sample

Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs. If you do not have a kit available in your office, please contact us here and we can have one sent out to your office.

  • Ensure that the patient sample is labeled with the patient’s name and date of birth.
  • Please note that all biochemical assays require a dried blood spot sample.
3. Send a sample

Package the patient sample, informed consent form, and test requisition form back into the test kit, and utilize the included pre-paid shipping label to return the kit to Revvity Omics for processing.

  • We ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.
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    FAQs
  • What are the prices of the tests on your biochemical and metabolic testing menu?

    For pricing, please email Revvity Omics or call us at 1-866-354-2910.

  • How long does it take to receive results from the tests on the biochemical and metabolic testing menu?

    The TAT can vary depending on the type of test selected. In general, the TATs are 3 days for most biochemical assays.

  • What sample types do you accept?

    All biochemical assays, including the StepOne® Comprehensive Biochemical Profile, require a dried blood sample. For any of our genetic testing options, we can accept a variety of sample types, including Saliva Swabs, Dried Blood Spots, Whole Blood, and Genomic DNA.

  • How do I collect a dried blood spot sample for the biochemical assays?

    Detailed directions on sample collection are included in each individual sample collection kit. Reach out to our laboratory at 1-866-354-2910 for more information.

  • How do I know if I collect the sample correctly on a dried blood spot card?

    For a correctly collected sample, the blood should completely fill each circle on the Dried Blood Spot Card. Please see the sample collection guide for more information.


This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location. The content on this page is provided for informational purposes only, not as medical advice. It is not intended to substitute the consultation, diagnosis, and/or treatment provided by a qualified licensed physician or other medical professionals.