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DNA Diagnostic Laboratory

  

Ordering Information

The Steps

Questions about obtaining consent for genetic testing? Please reference our handout or reach out to one of our genetic counselors at [email protected].

Please ship all samples to:

Johns Hopkins Genomics - DNA Diagnostic Lab
1812 Ashland Ave
Sample Intake; Room 245
Baltimore, MD 21205

  • The Johns Hopkins Genomics DNA Diagnostic Lab will now be utilizing an auto-activation or auto-cancellation policy for every sample we receive in the lab.

    When a sample is received in the lab, it will be evaluated to determine whether we have all necessary items needed to initiate testing.  If everything is in order, the lab will initiate testing for your patient as normal. 

    If items are missing upon sample arrival (e.g. test requisition form, consent, family member samples, billing documentation, etc.), this testing will be put on hold and you will be given 6 weeks before the testing is either auto-activated at the highest level of testing possible (applicable to exome duo, trio, or quad) or auto-canceled.  This 6-week date will be communicated to the provider upon sample arrival, along with a list of the items that are still pending.  If all necessary items are received before your auto-activation/cancellation date, testing will be initiated.  If items are still pending at the 4-week mark, the provider will be contacted again and reminded of the time remaining until an action will be taken on testing.   

    What is auto-activation?

    Auto-activation is only applicable for tests that require samples from more than one individual such as an exome duo, trio, or quad.  If your patient sample reaches the 6-week mark and there is enough documentation and samples to initiate some level of testing, the lab will do so.

    For example, if you ordered an exome trio and at the 6-week mark are only pending family member samples, the lab would initiate this testing as a proband-only exome.  This change will be communicated with the ordering provider.

    What is auto-cancellation?

    Auto-cancellation is applicable to all tests that require only a single patient sample.  If all necessary items needed to initiate testing are not received after 6 weeks of sample receipt, testing will be canceled.  If your testing is canceled, you will be notified by the lab and you will have 1 week to notify the lab if you need the sample returned to you before it is discarded. 

    *For external providers – if you request a sample to be returned please provide a FedEx account number to cover return shipping costs. The DNA Diagnostic Lab will not cover any shipping associated fees. 

    *For Hopkins providers – if the only item pending for your sample after 6 weeks is an insurance pre-authorization decision, this will remain on hold until it is either approved or denied.

    Please feel free to email us at [email protected] or call 410-955-0483 if you have any questions about this policy.  

  • Test Requisition Forms:

    Billing Forms:

    For additional information about out-of-pocket payment, Medicare and insurance billing, please see our billing information.

  • Samples require two (2) patient identifiers that match the sample with the accompanying paperwork. We are not able to test samples that are not properly identified.

    Accepted identifiers include:

    • Patient name and date of birth (preferred)
    • Internal identifiers (such as specimen ID or medical record number)

    Types of samples:

    • Blood Samples
    • Prenatal Samples
    • Saliva Samples
    • Other Samples
    • Unacceptable Samples

  • General Information

    • Johns Hopkins Genomics DNA Diagnostic Laboratory (JHG DDL) tests should be ordered through Epic. See our The EPIC order will require you to confirm the patient’s transfusion history and consent for testing. If you have not obtained consent for testing, use the reference links to complete the appropriate consent supplement. The consent supplements are included with the test instructions below.
    • See our Sample Requirements for additional guidance.
    • JHG DDL will pick up samples from the Clinic on Tuesdays and Fridays. If you have proband or parental saliva samples to be picked up, please place the samples in the “Johns Hopkins Genomics – Sample Pickup” box that will be placed in the GC suite. Samples from this box will be routinely picked up by a member of the JHG staff throughout the week.
    • If you need saliva kits, please email your request to [email protected].
    • Have the sample taken to the Core Lab or have the patient report to Express Testing. Express Testing and the Core Lab will route the sample to the DDL.
    • If a sample is processed through the Core Lab, the Johns Hopkins Genomics DNA Diagnostic Laboratory is not involved in billing.
    • The prices provided on our web site apply to outside referrals and do not necessarily reflect what your patient will be charged. If a sample is drawn in 'regulated space', Maryland law regulates the fees charged for laboratory services based on CPT codes, relative value units (RVUs), and the current RVU reimbursement rate. Neither the Johns Hopkins Genomics DNA Diagnostic Laboratory nor the Department of Pathology control the assigned RVUs or RVU rates. Please contact Pathology Customer Service at 5-1921 to find out the current fee for a test.
    • If the patient is uninsured, has a non-contracted insurance plan, or will be paying out of pocket for any other reason:
      • Have the patient sample drawn in non-regulated space to minimize out-of-pocket expense (see draw sites below) and do not order the test in Epic or process the sample through the Core Lab or Department of Pathology.
      • Contact the Johns Hopkins Genomics DNA Diagnostic Laboratory for pricing information at 410-955-0483.
      • Include credit card information or a check made out to Johns Hopkins University.

    Regulated Draw Sites

    JHH- East Baltimore Campus

    JHH-Bayview

    All other sites are consider non-regulated space.

    Clinical Exome Sequencing – Inpatient

    Proband Only [LAB10319], Duo (Proband) [LAB48401], Trio (Proband) [LAB45579], Quad (Proband) [LAB45579), Duo (Family Participant) [LAB52873), Trio (Family Participant) [LAB52874), Quad (Family Participant) [LAB52875)

    • Place an Epic order (JHG Clinical Exome Sequencing). If family members are participating, select the sample type, and consent choices. Family member orders can also be placed (Whole Exome Family Participant).

    Clinical Exome Sequencing – Outpatient

    Proband Only [LAB10319], Duo (Proband) [LAB48401], Trio (Proband) [LAB45579], Quad (Proband) [LAB45579), Duo (Family Participant) [LAB52873), Trio (Family Participant) [LAB52874), Quad (Family Participant) [LAB52875)

    • Initiate the pre-authorization process by contacting the JHG Billing Coordinator, Sabrina Ingram at [email protected].
    • Place an Epic order (JHG Clinical Exome Sequencing). If family members are participating, select the sample type, and consent choices. Family member orders can also be placed (Whole Exome Family Participant).

    Clinical Exome Reanalysis

    Exome Reanalysis [LAB53361]

    • Initiate the pre-authorization process by contacting the JHG Billing Coordinator, Sabrina Ingram at [email protected].
    • Place an Epic order (JHG Clinical Exome Reanalysis).
      • This order does not require new specimens to be drawn.
      • If family members are participating, select their respective consent choices.
      • If consent for the proband and family members has not been obtained before ordering, use the reference link to complete the JHG DDL Clinical Exome Reanalysis Proband Consent and JHG DDL Clinical Exome Reanalysis Family Member Consent for each participating family member and send it to the lab.

    Zoom Panel Tests

    JHG Zoom [LAB48892]

    • Initiate the pre-authorization process by contacting the JHG Billing Coordinator, Sabrina Ingram at [email protected].
    • Place an Epic order (JHG Zoom).
      • If consent for the patient has not been obtained before ordering, use the reference link to complete the JHG DDL Consent Supplement and send it to the lab.
      • If blood is selected as the sample type, this order will prompt a blood draw in Epic which can completed at Express testing.

    Zoom Out Testing

    JHG Zoom Out [LAB49298]

    • Initiate the pre-authorization process by contacting the JHG Billing Coordinator, Sabrina Ingram at [email protected].
    • Place an Epic order (JHG Zoom Out).
      • If consent for the patient has not been obtained before ordering, use the reference link to complete the JHG DDL ZoomOut Consent and send it to the lab.
      • No sample will be drawn for this testing.

    Targeted Variant Testing ($400/patient regardless of number of targets, all genes available)

    JHG Targeted Variant [LAB46861], JHG Targeted Variant (Positive Control) [LAB46860]

    • Confirm that the DDL can perform targeted testing for the variant. Initiate the pre-authorization process by contacting the JHG Billing Coordinator, Sabrina Ingram at [email protected].
    • Place an Epic order (JHG Targeted Variant).
      • Specify the variant to be tested.
      • Indicate a family member who will provide a sample to be used as a positive control. If the JHG DDL has previously targeted the variant in a family member, include the JHG DDL genetic ID, if known. Select the sample type to be provided. Family member orders can also be placed (JHG Targeted Variant Family Member Control).
      • If consent for the patient and family member has not been obtained before ordering, use the reference link to complete the JHG DDL Consent Supplement, for the patient and the family member, and send it to the lab.
      • If blood is selected as the sample type, this order will prompt a proband blood draw in Epic which can completed at Express testing.

    VUS RESOLUTION TESTING: JHG will provide testing free of charge for VUSs (identified by a JHG test) in potentially informative family members identified. Please contact [email protected] to coordinate this prior to sending a sample.

    Prenatal Targeted Variant Testing ($1350/order regardless of number of targets, all genes available, includes MCC)

    JHG Targeted Prenatal Variant 1 [LAB52933], JHG Targeted Prenatal Variant 2 [LAB52934], JHG Targeted Prenatal Variant 3 [LAB52935], JHG Targeted Variant (Positive Control) [LAB46860]

    • Confirm that the DDL can perform targeted testing for the variant. Initiate the pre-authorization process by contacting the JHG Billing Coordinator, Sabrina Ingram at [email protected].
    • Place an Epic order (JHG Targeted Prenatal Variant). If multiple fetuses are being tested, place an order for each fetus using Targeted Prenatal Variant 1, 2, 3.
      • Specify the variant to be tested.
      • A maternal blood or saliva sample is required to rule out maternal cell contamination. If blood is selected as the maternal sample type, this order will prompt a maternal blood draw in Epic which can completed at Express testing.
      • Indicate a family member who will provide a sample to be used as a positive control. If the JHG DDL has previously targeted the variant in a family member, include the JHG DDL genetic ID, if known. Select the sample type to be provided. Family member orders can also be placed (JHG Targeted Variant Family Member Control).
      • If consent for the patient and family member has not been obtained before ordering, use the reference link to complete the JHG DDL Consent Supplement, for the patient and the family member, and send it to the lab.

    Huntington Disease and Huntington Disease-Like 2

    Huntington Disease (HTT Gene) [LAB46603], Huntington Disease-Like 2 (JPH3 Gene) [LAB46714]

    • The DDL strongly recommends genetic counseling for individuals undergoing evaluation for Huntington Disease (HTT) or Huntington Disease-Like 2 (JPH3). Consider referring to the Huntington Disease Center for formal follow-up and genetic counseling. (Phone: 410-955-2398, Email: [email protected])
    • The DDL will not perform prenatal HTT or JPH3 testing that results in a double disclosure. At-risk individuals seeking testing for a pregnancy must be aware of their own carrier status before prenatal testing will be performed.
    • Initiate the pre-authorization process by contacting the JHG Billing Coordinator, Sabrina Ingram at [email protected].
    • Place an Epic order.
      • If blood is selected as the sample type, this order will prompt a proband blood draw in Epic which can completed at Express testing.
      • If specimen type is cord blood, chorionic villi, cultured amniocytes, or cultured chorionic villi, a properly labeled maternal sample must be submitted with this specimen to exclude maternal cell contamination of the sample. Please place an order for Maternal Cell Contamination (Stand Alone) [LAB46721].
      • If consent for the patient has not been obtained before ordering, use the reference link to complete the JHG DDL HD and HDL2 Consent Supplement and send it to the lab.

  • Documentation Requirements

    Please ship each specimen with the following required documents:

    1. A copy of our requisition form, available in print and complete or fillable PDF versions
    2. Appropriate family history and/or medical information for the test being ordered (see individual test page for specific requirements)
    3. Payment information (see Billing for more information)

    Shipping Address

    Johns Hopkins Genomics - DNA Diagnostic Lab
    1812 Ashland Ave
    Sample Intake, Room 245
    Baltimore, MD 21205

    Schedule

    Before shipping targeted or prenatal samples, call the lab at (410) 955-0483.

    Please note that we are not able to accept specimens on Saturday. Check our holiday schedule to see when the lab is closed.

    Fees

    Shipping fees are the responsibility of the sender or patient. Johns Hopkins does not cover these fees as part of our diagnostic service. Please DO NOT select "Bill Recipient" when sending a sample to the laboratory.

    General Packing Guidelines

    General packaging guidelines include wrapping glass tubes in absorbent padding, including at least one water-tight barrier in the packaging, and always mailing specimens in a sturdy box. Your courier service may also require a special outer envelope identifying the package as a biological substance.

    Shipping Regulations

    Shipment of medical diagnostic specimens is also regulated by the FAA and individual overnight courier services. Please consult your courier for their specific packaging requirements and acceptable shipping options for medical specimens.

    The International Air Transport Association has updated the regulations for shipping dangerous goods (including infectious agents and diagnostic specimens). Please visit the IATA web site for the latest information or view a summary of the 2006 regulations.

    As of January 1, 2007, samples must be labeled: "Biological Substance, Category B". The terms "Clinical Specimen" and "Diagnostic Specimen" should no longer be used. See sample label that can be printed and affixed to your packages.

  • Clinical Exome Sequencing

    1. Initiate the pre-authorization process by contacting the JHG Billing Coordinator, Sabrina Ingram at [email protected].
      1. Please complete and attach a test requisition form and insurance provider in this email to ensure a quick initiation of the pre-auth process.
    2. Email [email protected] to coordinate sample pickup, if necessary.

    Zoom Tests

    1. Initiate the pre-authorization process by contacting the JHG Billing Coordinator, Sabrina Ingram at [email protected].
      1. Please complete and attach a test requisition form and insurance provider in this email to ensure a quick initiation of the pre-auth process.
      2. Indicate which subcategory(s) you would like to order for this patient.
    2. If the patient is inpatient when this test is ordered, pre-authorization is not required to initiate testing.
    3. Contact [email protected] to coordinate sample pick up.

    ZoomOut Testing

    1. Initiate the pre-authorization process by contacting the JHG billing coordinator, Sabrina Ingram at [email protected].
      1. Please complete and attach a test requisition form and insurance provider in this email to ensure a quick initiation of the pre-auth process.
    2. If the patient is inpatient when this test is ordered, pre-authorization is not required to initiate testing.
    3. Contact [email protected] to coordinate sample pick up.

    Targeted Testing ($350/patient regardless of number of targets, all genes available)

    1. Complete the requisition form and email the completed requisition form to [email protected].
    2. VUS RESOLUTION TESTING: JHG will provide testing free of charge for VUSs (identified by a JHG test) in potentially informative family members identified. Please contact [email protected] to coordinate this prior to sending a sample.
    3. Contact [email protected] to coordinate sample pick up.

    Prenatal Targeted Testing ($1350/order regardless of number of targets, all genes available, includes MCC)

    1. Complete the requisition form and email the completed requisition form to [email protected].
    2. If you need saliva kits, please email your request to [email protected].
    3. Contact [email protected] to coordinate sample pick up.

    Billing

    The following requirements must be met in order to initiate testing:

    • Financial responsibility is established
    • Required forms are completed and received
    • Billing issues are resolved.

    We are not able to bill insurance plans with which we are not contracted to provide laboratory services, even if the plan authorizes testing.

    Note About CPT Codes - as many of our tests for rare diseases are using the unlisted code (81479), we anticipate an increase in denials of coverage. Verification of coverage of the test codes is required, and patients should be informed of the possibility of insurance denials.

    CPT Code List

    Billing options:

    Institutional Billing

    If the institutional billing option is selected, an invoice will be sent to the referrer’s organization and address unless otherwise specified in the billing section or on a separate sheet attached to the requisition form. If an organizational credit card will be used, please complete the credit card authorization form.

    Patient Self-Pay

    If the patient is paying out of pocket, we require a personal check, cashier's check or money order (made out to Johns Hopkins University) or credit card information. We are unable to directly bill patients for services.

    If requested, we will mail the patient a receipt that may be submitted to the insurer to request reimbursement. Please indicate this request on the requisition form and provide the patient's complete mailing address.

    Contract Managed Care/Insurance

    We are contracted with many national health plans, although we are not contracted with HMO plans or many smaller regional plans.

    We strongly recommend contacting our billing coordinator prior to submitting a sample to arrange insurance billing. Faxing the patient's Insurance Card ahead of time will allow us to verify the contract status.

    Required Documents

    • Copy of patient's insurance card, front and back
    • Letter of medical necessity from referring physician
      • See a sample letter
      • Checklist for creating letter of medical necessity
    • Billing Consent (Fillable PDF: Billing Consent_Fillable)
    • Authorization letter (if required by the insurance plan), including the authorization number and CPT codes authorized; or if no authorization is necessary, note the name and extension of the plan employee who provided this information.

    Maryland Medicaid

    Maryland Medicaid Billing includes Medicaid managed care providers in Maryland. We are not able to bill any Medicaid program outside of Maryland.

    Required Documents

    • Copy of patient's insurance card, front and back
    • Letter of medical necessity from referring physician
      • See a sample letter
      • Checklist for creating letter of medical necessity
    • Billing Consent (Fillable PDF: Billing Consent_Fillable)
    • Copy of driver's license or photo ID (required for 18 and older only)
    • Physician referral or prescription for testing

    Medicare

    Required Documents

    • Copy of patient's insurance card, front and back
    • Letter of medical necessity from referring physician
      • See a sample letter
      • Checklist for creating letter of medical necessity
    • Billing Consent (Fillable PDF: Billing Consent_Fillable)
    • Copy of driver's license or photo ID (required for 18 and older only)
    • Physician referral or prescription for testing
    • Signed Medicare Advanced Beneficiary Notice (see instructions for completing Advanced Beneficiary Notice)

Billing

The following requirements must be met in order to initiate testing:

  • Financial responsibility is established
  • Required forms are completed and received
  • Billing issues are resolved.

We are not able to bill insurance plans with which we are not contracted to provide laboratory services, even if the plan authorizes testing.

Note About CPT Codes - as many of our tests for rare diseases are using the unlisted code (81479), we anticipate an increase in denials of coverage.  Verification of coverage of the test codes is required, and patients should be informed of the possibility of insurance denials.

CPT Code List

Billing Options

  • If the institutional billing option is selected, an invoice will be sent to the referrer’s organization and address unless otherwise specified in the billing section or on a separate sheet attached to the requisition form. If an organizational credit card will be used, please complete the credit card authorization form.

  • If the patient is paying out of pocket, we require a personal check, cashier's check or money order (made out to Johns Hopkins University) or credit card information.  We are unable to directly bill patients for services.

    If requested, we will mail the patient a receipt that may be submitted to the insurer to request reimbursement.  Please indicate this request on the requisition form and provide the patient's complete mailing address.

  • We are contracted with many national health plans, although we are not contracted with HMO plans or many smaller regional plans.

    We strongly recommend contacting our billing coordinator prior to submitting a sample to arrange insurance billing.  Faxing the patient's Insurance Card ahead of time will allow us to verify the contract status.

    Required Documents

  • Maryland Medicaid Billing includes Medicaid managed care providers in Maryland. We are not able to bill any Medicaid program outside of Maryland.

    Required Documents

  • Required Documents

 
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