Questions about obtaining consent for genetic testing? Reference our handout or reach out to our genetic counselors.
- Johns Hopkins Genomics DNA Diagnostic Laboratory (JHG DDL) tests should be ordered through Epic.
- JHG DDL will pick up samples from the Genetics 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. Blood samples should be kept in the DDL bin in the refrigerator in the GC Suite. Samples from these two locations 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].
- Samples collected in Epic and labelled with an Epic specimen label can be routed to the lab by Express Testing or the Core Lab.
Epic Test Information
- Clinical Exome Sequencing
- Proband Only [LAB10319]
- Duo (Proband) [LAB48401]
- Trio (Proband) [LAB45579]
- Quad (Proband) [LAB45579]
- Duo (Family Participant) [LAB52873]
- Trio (Family Participant) [LAB52874]
- Quad (Family Participant) [LAB52875)
- Clinical Exome Reanalysis [LAB53361]
- Zoom Panels
- JHG Zoom [LAB48892]
- JHG Zoom Out [LAB49298]
- Targeted Variant Testing
- JHG Targeted Variant [LAB46861]
- JHG Targeted Variant Positive Control [LAB46860]
- JHG Targeted Prenatal Variant 1 [LAB52933]
- JHG Targeted Prenatal Variant 2 [LAB52934]
- JHG Targeted Prenatal Variant 3 [LAB52935]
- Huntington Disease and Huntington Disease-Like 2
- HTT Gene [LAB46603]
- JPH3 Gene [LAB46714]
Billing and Sample Collection
- If a sample is processed through the Core Lab, the JHG DDL 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 JHG DDL for pricing information at [email protected].
- Include credit card information or a check made out to Johns Hopkins University.
- Regulated Draw Sites
- JHH- East Baltimore Campus
- Express Testing – Outpatient, 410-955-1688
- Core Lab – Nelson 2, 410-955-3580
- BMO- Ground Floor, 410-550-5797
- 301 Building – 3rd Floor, 410-550-2400
All other sites are considered non-regulated space.
- JHH- East Baltimore Campus
- Contact the billing coordinator at [email protected] to initiate the pre-authorization process (if applicable). Include a completed test requisition form and insurance provider to ensure a quick initiation of the pre-authorization process.
- Prior-authorization is not required for inpatients. Testing will be bundled into the hospital bill.
- Prior-authorization is required for outpatients. Before sending a sample for testing, contact the billing coordinator to provide the following information.
- Patient Name
- Patient DOB
- Patient MRN
- Ordering Provider
- Ordering Provider NPI
- Date of Service
- Date of clinical note to be used for insurance justification/authorization
- Relevant ICD-10 code(s)
- Test Rationale/Impact of genetic testing on clinical evaluation
- You will receive email updates about whether prior-authorization has been approved or denied. This process can take anywhere from a few days to over a month.
- Email [email protected] to coordinate sample pickup, if necessary.
If the patient is from the state of New York, the ordering provider is required to complete and submit the New York State Non-Permitted Laboratory Test Request Approval Form to the New York State Department of Health Clinical Laboratory Evaluation Program (CLEP) for approval. This request must be completed by the ordering provider and the approval shared with the JHG DDL before testing can begin.
Please send non-permitted lab test request forms to the following CLEP program:
Genetic Testing Quality Assurance Program
Wadsworth Center, NYSDOH
The Johns Hopkins Genomics DNA Diagnostic Lab uses 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-cancelled. 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 cancelled. If your testing is cancelled, you will be notified by the lab and you will have one 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 contact us if you have any questions about this policy.
Labeling: Specimens require two (2) patient identifiers that match the specimens 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), or internal identifiers such as specimen ID or medical record number.
Transfusion/Transplant History: In certain situations, transfusions and transplants can impact the accuracy of genetic test results. Please review the guidelines for specimen collection from individuals who have received a transfusion or transplant. If you have any further questions, please contact the lab prior to specimen collection.
- If your patient has received a transfusion of packed red blood cells (pRBCs) or leukocyte-reduced blood products, you can still collect/send a specimen, as this will not affect genetic testing. If your patient has had any other type of transfusion, you must wait until at least two (2) weeks after the transfusion date to collect a specimen for genetic testing
- If your patient has ever received an allogenic bone marrow or stem cell transplant, cultured fibroblasts are only acceptable specimen type.
Prenatal Testing: All prenatal tests will include maternal cell contamination studies and must be accompanied by a maternal blood or saliva specimen.
Please ship all samples to:
Johns Hopkins Genomics - DNA Diagnostic Lab
1812 Ashland Ave
Sample Intake; Room 245
Baltimore, MD 21205
The lab is not open on weekends for sample delivery. Please plan your specimen shipments accordingly.
Pediatric patients: Minimum of 3mL whole blood in EDTA (lavender top) tubes, but specimens will be tested if extraction yields sufficient quantity and quality of DNA. Refer to the Pediatric Blood Sample Algorithm for details.
Adult patients: Minimum of 6mL whole blood in EDTA (lavender top) tubes. Refer to the Adult Blood Sample Algorithm for details.
Cord Blood: Draw at least 3mL cord blood in EDTA (lavender top) tubes. Cord blood samples should be clearly labeled as such. A maternal blood, DNA, or saliva is required with all prenatal samples to rule out maternal cell contamination.
Stability and Shipping: Blood samples are stable at 4 degrees Celsius for longer than one week. Refrigerate and ship with cold pack by overnight courier; sample can be stored at room temperature if it will arrive in the lab less than 36 hours after blood draw. Do not freeze blood samples.
Unacceptable sample types: Blood drawn in Green top (Lithium or Sodium Heparin), Red top (Clot Activator), Blue top (Royal: Clot Activator; Light: CTAD) tubes are not acceptable. Samples that have been frozen will be rejected.
Note: The minimum sample volume will likely not be sufficient to complete testing for individuals with low white cell counts. Please see the appropriate algorithm for alternate minimum volumes and sample sources.
Cultured Amniocytes or Chorionic Villi
- 2 confluent T25 flasks, 80-90% confluent at time of shipping.
- Ship in flask filled with culture media, room temperature by overnight courier.
- A backup prenatal cell culture should be maintained by the referring institution or lab until testing is complete.
- A maternal blood, DNA, or saliva is required to rule out maternal cell contamination.
Direct Chorionic Villi
- 10 mg, cleaned
- Ship cell pellet on dry ice by overnight courier; can be shipped at room temperature if the sample will arrive in the lab less than 36 hours after procedure.
- A backup CVS culture should be maintained by the referring institution or lab until testing is complete.
- A maternal blood, DNA, or saliva is required to rule out maternal cell contamination.
Note: We do not accept direct amniotic fluid for prenatal testing.
- Oragene 500 or Oragene 600 kits only
- Stable at room temperature after collection. Ship at room temperature by overnight courier.
Note: We do not accept saliva specimens from children under five (5) years of age.
- 1-2ug at 50ng/ul DNA preferred
- Ship frozen DNA on dry ice by overnight courier.
Isolation or extraction of nucleic acids must be performed in a CLIA-certified laboratory or a laboratory meeting equivalent (or more stringent) requirements as determined by the College of American Pathologists (CAP) and/or the Centers for Medicare and Medicaid Services (CMS).
- One (1) confluent T75 flask
- Ship flask filled with culture media, at room temperature by overnight courier.
- A backup cell culture should be maintained by the referring institution or lab until testing is complete.
- Fixed tissue
- Paraffin embedded tissue
- Frozen tissue
- Buccal swabs
- Direct amniotic fluid
- The lab is not open on weekends or holidays. Check our holiday schedule to see when the lab is closed. When the lab is closed, no personnel will be present to answer phone calls or accept deliveries. Please plan your specimen shipments accordingly.
- Specimens should be accompanied by:
- Completed test requisition form
- Appropriate family history and/or medical information for the test being ordered. See individual test descriptions for specific requirements.
- Payment information. Testing will not be initiated until financial responsibility is established. See the billing page for details.
- Shipping fees are the responsibility of the sender or patient. Johns Hopkins Genomics does not cover these fees as part of our service. Do not select "Bill Recipient" when sending a sample to the laboratory.
- The International Air Transport Association has updated the regulations for shipping dangerous goods (including infectious agents and diagnostic specimens). Please visit IATA for details or view a summary of the 2006 regulations. As of January 1, 2007, samples must be labeled: "Biological Substance, Category B". Please use this sample label that can be printed and affixed to sample packages.
- 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.
- 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.