How To Order

The ordering process may vary slightly depending on the type of testing that is requested. Please select below the type of test that you are interested in ordering for specific detailed instructions.

Ordering Instructions by Test Type

Whole Exome and Whole Genome Sequencing
  1. Select the correct test for your patient, then download and fill out the Clinical Genomics test requisition form.
    • Please make sure that all sections are completed and that the patient has signed an informed consent form.
    • If a TRIO is ordered, please fill out the “Familial Information” section for tracking purposes.
  2. Obtain a sample for testing from the patient using one of the provided PerkinElmer Genomics 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 all samples are labeled with the patient name and date of birth.
    • For WES/WGS Trio tests, parental and/or family member samples can be submitted separately from the patient/proband, if needed. Additional samples must be received by the laboratory within three weeks of the original patient/proband submission.
      • All parental/family member samples must be submitted with a fully completed Family Member Requisition and Informed Consent form, complete with both physician and patient signatures.
  3. Package sample(s), informed consent form(s) and test requisition form(s) back into the test kit, and utilize the included pre-paid shipping label to return the kit to PerkinElmer Genomics for processing.
    • As a patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.
AnyPanel™
  1. Select the correct test for your patient, and fill out the AnyPanel™ test requisition form.
    • Please make sure that all sections are completed and that the patient has signed an informed consent form.
      • For an AnyPanel™ pre-curated test, please be sure to write the appropriate test code on the requisition form. A full list of available panels can be found here.
      • For an AnyPanel™ – Custom test, please make sure to include a full list of genes that you would like analyzed for the patient.
  2. Obtain a sample for testing from the patient using one of the provided PerkinElmer Genomics test packs. If you do not have a kit available in your office, please contact us here, and we can have one sent to your office.
    • Ensure that the patient sample is labeled with the patient name and date of birth.
  3. 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 PerkinElmer Genomics for processing.
    • As a patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.
CNGnome™
  • Select the correct test for your patient, and fill out the Clinical Genomics test requisition form.
    • Please make sure that all sections are completed and that the patient has signed an informed consent form.
      • If the CNGnome™ test is being ordered in combination with WES or WGS, please be sure to fill out all appropriate sections, including the family member section for TRIO orders.
    • Obtain a sample for testing from the patient using one of the provided PerkinElmer Genomics test packs. If you do not have a kit available in your office, please contact us here, and we can have one sent to your office.
      • Ensure that the patient sample is labeled with the patient name and date of birth.
    • 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 PerkinElmer Genomics for processing.
      • As a patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.
StepOne® Comprehensive Biochemical Profile
  • StepOne® ordering packets may be ordered by parents or providers through this website at Order StepOne® or by calling 866-463-6436.
  • The ordering packet will be shipped directly to the patient or provider, and will contain all of the information and materials required to order the StepOne® Comprehensive Biochemical Profile.
  • Screening a newborn is easily accomplished, but it must be coordinated by a physician.
    • If you are a parent interested in the testing, take your StepOne® packet with you to the hospital at the time of delivery. Included in the packet is a letter to your physician discussing the test, and the filter paper for the blood specimen collection. Directions for the sample collection, including how to coordinate, handle, and submit the filter paper for analysis will be included.
  • All specimens should be drawn between 24 and 48 hours after birth. Please fill out completely all required fields in the ordering packet to ensure timely processing.
    • A healthcare professional will take a small sample of blood by pricking the baby’s heel and place it on the absorbent filter paper included in the packet. After the sample dries, follow the included instructions to prepare for shipment.
  • Utilize the prepaid UPS envelope provided in the ordering packet to return the sample to PerkinElmer Genomics.
    • The filter paper with the blood spots and physician’s name should both be included when the sample is submitted to the laboratory for processing.

The completed results will be sent to the ordering physician listed on the form in approximately 3 days.

 

Other Biochemical and Metabolic Testing
  1. 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. Obtain a sample for testing from the patient using one of the provided PerkinElmer Genomics test packs. If you do not have a kit available in your office, please contact us here and we can have sent one out to your office.
    • Ensure that the patient sample is labeled with the patient name and date of birth.
    • Please note that all biochemical assays require a dried blood spot sample.
  3. 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 PerkinElmer Genomics for processing.
    • As a patient’s clinical presentation is an essential part of fully interpreting genetic test results, 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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