Depending on the type of testing being ordered, EPIC will require the individual placing the order to answer questions about patient consent. Patients should be informed that genetic testing is being ordered as part of their care. ZoomOut, exome sequencing, and exome reanalysis orders include specific questions about each individual's informed consent choices regarding secondary findings, participation in research, and sharing raw data with their provider.

For an overview of informed consent for genetic testing, including topics for discussion, possible results, and the risks and benefits of testing, please reference this handout. 

In certain situations, transfusions and transplants can impact the accuracy of genetic test results. Blood and saliva are not acceptable specimen types if a patient has:

• Received blood products other than pRBCs within the last 2 weeks.
• Received an allogenic bone marrow or stem cell transplant. Cultured skin fibroblasts are the recommended specimen type.
• Active hematologic malignancy. Cultured skin fibroblasts are the recommended specimen type.

Review our Sample Requirements for information about collecting specimens from patients who have received a transfusion or transplant.

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]

Maternal Cell Contamination: MCC (Stand Alone) [LAB46721]

Huntington Disease and Huntington Disease-Like 2

• HTT Gene [LAB46603]
• JPH3 Gene [LAB46714]

• 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].

• 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
  • JHH-Bayview
    • BMO- Ground Floor, 410-550-5797
    • 301 Building – 3rd Floor, 410-550-2400

All other sites are considered non-regulated space.