Second Tier Testing

second tier testing
About second tier testing

Second-tier testing options can be used to confirm the presence of a genetic disorder after an abnormal newborn screen result. Our testing menu pairs follow-up biochemical assays (such as enzyme analysis) with a multitude of genetic testing options to ensure that providers have both the tools that they need, along with the options that that they prefer, when treating and diagnosing biochemical and metabolic conditions.

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Testing options

Biochemical Testing (9)
Congenital adrenal hyperplasia - 17A Hydroxyprogesterone (17 OHP)
Test Code B0002
Turn Around Time 3 days
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Hunter Syndrome (MPS-II)
Test Code NBS015
Turn Around Time 12 days
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Gauchers Disease
Test Code NBS014
Turn Around Time 12 days
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Thyroid-Stimulating Hormone (TSH)
Test Code B0003
Turn Around Time 3 days
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Krabes Diease
Test Code NBS023
Turn Around Time 12 days
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Thyroxine (T4)
Test Code B0004
Turn Around Time 3 days
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Fabry Disease
Test Code NBS013
Turn Around Time 12 days
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Lyso Gb1 only
Test Code NBS017
Turn Around Time 12 days
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Lyso Gb3 only
Test Code NBS016
Turn Around Time 12 days
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Gene Sequencing (3)
NBS Follow-up: IDS Gene Test with JSON
Test Code NBS5042J
Turn Around Time 7 - 10 days
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NBS Follow-up: IDS Gene Test
Test Code NBS5042
Turn Around Time 7 - 10 days
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NBS Follow-up: GAMT Gene Test with JSON
Test Code NBS5044J
Turn Around Time 7 - 10 days
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Targeted Mutation Panel (12)
Glucose-6-phosphate Dehyrogenase Deficiency Mutation Panel
Test Code D0404
Turn Around Time 10 - 12 days
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LCHADD Mutation Panel
Test Code D0407
Turn Around Time 10 - 12 days
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3-MCC Deficiency Mutation Panel
Test Code D0410
Turn Around Time 10 - 12 days
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Methylmalonic Acidemia Mutation Panel
Test Code D0411
Turn Around Time 10 - 12 days
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Biotinidase Deficiency Mutation Panel
Test Code D0402
Turn Around Time 10 - 12 days
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Maple Syrup Urine Disease Mutation Panel
Test Code D0401
Turn Around Time 10 - 12 days
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Propionic Acidemia Mutation Panel
Test Code D0412
Turn Around Time 10 - 12 days
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Isovaleric Acidemia Mutation Panel
Test Code D0409
Turn Around Time 3 - 5 weeks
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Galactosemia Mutation Panel
Test Code D0405
Turn Around Time 10 - 12 days
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MCADD Mutation Panel
Test Code D0400
Turn Around Time 10 - 12 days
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Sickle Cell and Other Hemoglobinopathies Mutation Panel
Test Code D0408
Turn Around Time 10 - 12 days
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Glutaric Acidemia Type I Mutation Panel
Test Code D0406
Turn Around Time 10 - 12 days
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How to order

Step 1

Test selection and place order

Step 2

Specimen collection and shipment

Step 3

Get results
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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.

  • 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. Please go through our DBS sample collection guide 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 go through our DBS sample collection guide for more information.

  • 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.


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.