• 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
Phone: 518-474-6271
Fax: 518-486-2693

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.

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).

Cultured fibroblasts

• 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