• Shipping
• Required paperwork
• Specimen Requirements
• Billing
• Results and analysis
• Adding on tests
• Difference Between CopyDx^SM and GenomeDx
• Contact information
• Certifications and important numbers
• Downloadable forms

Shipping

Q: Where do I send a specimen?
Attn: Accessions
GeneDx
207 Perry Parkway
Gaithersburg, MD 20877

Q: How do I send a specimen?
A: A specimen should be packed in materials that prevent its container from being damaged during shipment. Cheek brush specimens can be sent through the regular postal mail using the envelope addressed to GeneDx that is included with the kit. Blood, prenatal and other specimens should be shipped to us using an overnight delivery service. Minimally, the specimen should be shipped to us with a completed Sample Submission Form (Requisition), including the payment options form.

Q: Can I ship specimens by regular postal mail?
A: Cheek brush samples or DNA may be shipped by regular mail. All other types of samples should be sent by overnight or second-day delivery for receipt Tuesday through Saturday. If a sample is collected on a Saturday or over a weekend then it should be kept in the refrigerator and shipped on the next business day for overnight delivery. Keeping the specimen refrigerated over the weekend will not compromise the quality of the specimen.

Q: Does GeneDx accept deliveries on Saturdays?
A:Yes. GeneDx now accepts samples on Saturdays. Please call ahead (301-519-2100) if you will be shipping a prenatal sample to arrive on Saturday. If a specimen is collected on a Saturday or cannot be shipped overnight, please keep it in the refrigerator and ship it on the next business day for overnight delivery.

Q: Does GeneDx pay for shipping?
A: No, the cost of shipping is the responsibility of the sender.

Required paperwork

Q: What paperwork do I need to include?
A: Minimally, you will need to complete the appropriate Sample Submission Form (Requisition) including the Payment Options page of the form and include these with the specimen. Specimens without proper ordering or payment information will be held until the appropriate information is provided to us.

Q: Is the consent document required?
A: You are not required to send GeneDx a completed consent document according to the federal regulations governing clinical laboratories. However, for your convenience, we do provide consent forms for each test we offer. It is important to know that your state government may require documentation of the informed consent process (for a listing, see: http://www.ncsl.org/programs/health/genetics/prt.htm). In addition, although GeneDx does not require the consent form to accompany the sample, we recognize that the informed consent process is an important component to any genetic testing protocol and encourage practitioners to obtain informed consent from patients being tested.

Specimen Requirements

Q: For tests where the specimen can be either a blood or buccal specimen, which sample type is preferred? Is there any difference?
A: The accuracy and turnaround time of the testing is the same between a blood specimen and a buccal brush specimen. For nearly all of our tests, the quality of DNA obtained from a blood specimen and a buccal brush specimen is sufficient to complete the testing ordered. We actually prefer buccal brush specimens for many of our sequence based tests. However, there are a few tests that REQUIRE A BLOOD SPECIMEN. Please click here for a list of tests for which we can NOT accept a buccal specimen. For ELANE (ELA2) gene testing (Congenital or Cyclic Neutropenia), blood samples are preferable over buccal brushes.

Q: Can I use a cheek brush kit that isn't a GeneDx kit?
A: No. Click here to order a GeneDx buccal kit.

Q: Why can't I use a cheek brush kit for certain tests?
A: There are a small number of trouble spots in a handful of the genes we test. Completing these tests in a timely manner requires a different quality of DNA than a cheek brush can provide. Similarly, buccal brushes cannot be accepted for any gene deletion or duplication testing whether ordered individually or as part of a reflexive test. These methodologies include quantitative PCR (CopyDx), MLPA, ExonArrayDx and GenomeDx oligonucleotide microarray analysis.

For all other tests, the quality of DNA from a buccal brush specimen is perfectly adequate, and even preferred, for our purposes.

Click here to see Tests For Which Buccal Brushes Cannot Be Used

Q: I am drawing a specimen from an infant. What is the minimum amount of blood required?
A: We would like at least 1-2 cc of whole blood in EDTA (purple top tube) to perform any test. Q: Can buccal brush specimens be collected on infants?
A: No. We have had less success in obtaining adequate DNA from buccal brush specimens on infants under the age of 6 months. Therefore, we request blood specimens (1-2 cc of whole blood in EDTA) on small babies.

Q: If more than one test is being ordered on the same patient, is it better to provide a tube of blood for each test?
A: No. GeneDx obtains enough DNA from one specimen to complete a number of tests. We generally discard all but 5 milliliters of whole blood on a patient, because more than that is unnecessary and we have limited space in which to store specimens. Pediatric patients usually don't require more than 2 milliliters. 

Q: What are the specimen requirements for prenatal testing?
A: The following specimens are necessary for completion of a prenatal test:

Prenatal specimen  please click here for printable instructions for collecting a prenatal sample.

A maternal blood or buccal specimen is obligatory and required for maternal cell contamination studies. Please send 2-5 mL whole blood in EDTA in a purple top. We also request (if possible) a paternal blood or buccal specimen (2-5mL whole blood in EDTA in a purple top tube).

Positive control specimen(s) for proper interpretation of fetal test results in familial disorders

• Sample from an affected family member OR known mutation carrier.
• For autosomal recessive disorders, blood samples from BOTH parents. If parental carrier testing has not been performed previously and a report is desired, this service can be provided. ( Carrier Detection)

Q: Can I order more buccal kits?
A: Yes, you can order buccal swab kits easily through our website under Buccal Swab Kits/Order or by sending an email to robin@genedx.com .

Q: Can I send DNA?
A: Yes. Please click here to determine the DNA requirements based on the test being ordered.

Billing

Q: Does GeneDx accept insurance?
A: GeneDx does not participate with any insurance company plans and therefore we do not "accept" (settle for) insurance payment rates as payment in full. We can bill insurance as a courtesy but patients are responsible for the balance of our fees not covered by insurance.

Q: What is necessary for GeneDx to bill my insurance?
A: As a courtesy, we will bill a patient's insurance if provided with all of the following: (1) a written letter of preauthorization from the insurer, (2) a photocopy of the front and back of the insurance card, and (3) a credit card from the patient. We will not start the testing until we have received all three of these, so please send this information along with the specimen.

Q: Why do I need to submit credit card information if I have a letter from my insurance company stating that they will cover the cost of the test?
A: In many cases, insurers reimburse the patient directly (not the laboratory) when a claim is submitted. Also, some plans do not cover the entire cost of the test or the fee goes toward the deductible and the patient is responsible for all or part of the balance. For these reasons, we require the patient's credit card information up front. The card is billed only after the patient is notified and given 10 days to get in touch with us. If the insurance company does not pay the full amount, the process works as follows: once we receive the Explanation of Benefits (EOB) from the insurance company, we send the patient a letter stating the amount due (which is billed 10 days after the date on the invoice) and a copy of the EOB, if available. This gives the patient the opportunity to contact us to change their method of payment, if they desire, or lets them know when and how much will be charged to their card.

Q: How can I find out how much my insurance will cover?
A: This depends on your particular plan and whether your deductible has been met. Facts you can give your insurance company about the test itself and GeneDx are as follows:

1. Print the Information Sheet for the test (gene) you want from the GeneDx website. The last page contains the CPT codes, a series of several 5-digit numbers that, taken together, describe the test procedure for analyzing any gene. 
    
2. If the CPT codes are accepted, note that the codes have multipliers such as "x 10". This number varies depending on how big the gene is. Ask how many times a code can be used per date of service. Explain that ONE test does indeed call for the full number of repetitions stated. 
    
3. Make sure the insurance company covers those CPT codes for the symptoms you or your child have. Your doctor may need to provide a letter of medical necessity. The symptoms or reasons for needing the test may be described with code numbers called ICD codes. 
    
4. Be sure to explain that GeneDx is out-of-network. If the reimbursement would be higher for an in-network lab, but there is no in-network laboratory that can do this test, ask if you can receive the in-network rates.
    
5. For insurance plans with regional offices such as Blue Cross, the reimbursement rates that apply will be for the region where GeneDx is located: Gaithersburg, MD 20877

Q: Does GeneDx accept my state's Medicaid?
A: GeneDx is not a participating provider with any state Medicaid plan. For patients with Medicaid, please have Medicaid contact our Accounts Specialist, Beverly Jubela (beverly@genedx.com) , 301-519-2100 x6106. GeneDx will do our best to negotiate a price and arrange an individual contract directly with Medicaid for the services ordered by a physician. State Medicaid plans that have refused to negotiate with and/or pay GeneDx for services rendered include New York, Maryland, Arizona and California. Please be aware that we are unlikely to have successful negotiations with these plans, and that very rarely we cannot come to an appropriate agreement with other Medicaid plans as well.

Q: Can I set up an institutional billing account?
A: There is generally no need to set up an account with us if you are shipping specimens from a hospital laboratory or physician's office. Simply provide the contact information (name, phone and fax numbers, and address) to which we can mail an invoice and CPT codes for the services rendered.

Results and analysis

Q: Why are the results of testing sent directly to the referring physician rather than the patient or parent of a patient?
A: Genetic testing is usually performed as a tool to help the physician make a diagnosis or to help a physician manage a patient's health care. Because the results of genetic testing may lead to additional testing, it is best for the physician to receive the results so that an appropriate plan for the care of the patient can be determined. In addition, the results of genetic testing can sometimes be complicated and difficult to understand. In most cases it is best to report the results to a healthcare professional who has both a relationship with and the time to explain such results to the patient or patient's parents.

Q: Is my test finished yet?
A: Our goal is to provide you with an accurate result in a reasonable time period. The time it takes to complete a test varies depending on a number of factors including the size of the gene, the complexity of the interpretation, the occasional need to redesign or repeat a test, and other things can all extend the amount of time it takes for results. Turn around time is specific for each test. The information sheets for each condition (found under Diagnostic Testing) indicate an estimated time frame for completion of the test. These estimates are based on the average amount of time it has taken us to complete the test in the past. As soon as a test is completed the results are transmitted to the referring physician or ordering facility. Positive test results and tests performed on prenatal specimens are also called if a physician's phone number is provided to us.

Q: The test result has been lost or was never received, can you resend it?
A: GeneDx can provide you with a duplicate copy of the test result if you are the ordering physician or are from the ordering facility. We cannot send results to the patient or other physicians involved in the care of the patient without a signed release from the patient authorizing us to do so. When calling for a report, please let us know the first and last name of the patient and when the specimen was sent.

Q: I received an invoice, but not the result.
A: Billing occurs separately from the laboratory analysis and bills are sent out shortly after the specimen is received at GeneDx. We understand that many lab policies require the results before a payment is made. Second notices are faxed out 60 days after the report is issued.

Q: Can a test be expedited?
A: All prenatal specimens for which the mutation in the family is known are expedited. If there are other medical indications for expediting a test, please let us know and we will do our best to get a result out as quickly as possible. The most common indications for expediting a test in the lab are a scheduled or necessary procedure (e.g. surgery, bone marrow transplant) and testing on a pregnancy or family member of a pregnant woman.

Q: Is it possible to receive reports electronically?
A: Yes, GeneDx utilizes the CareEvolve electronic result reporting system. CareEvolve is a user-friendly, web-based, HIPAA compliant, secure report retrieval system. Designated personnel from your institution or office (lab director, physicians, genetic counselors, nurses, etc.) can access result reports electronically via password protection. This method allows for quick electronic access to reports that will help eliminate excess paper copies. Reports are uploaded every three hours in a convenient pdf format and can be accessed and retrieved repeatedly for a period of 180 days.

We feel that this system helps deliver laboratory results in a quicker and more convenient manner than traditional faxing and mailing. If you are interested in learning more about CareEvolve and how it can be beneficial to your institution or office, or would like to become part of the CareEvolve reporting system, please contact our customer service specialist at 301-519-2100 ext. 6227 or via email at johanne@genedx.com.

Adding on tests

Q: I would like to order another test on a patient who was tested previously. Do I need to submit another specimen?
A: No. Generally, GeneDx obtains enough DNA from one specimen to allow completion of a number of tests. A second specimen is not necessary.

Q: What is the procedure for adding on further testing to a sample already at GeneDx?
A: An additional test can be added on to a sample already at GeneDx by submitting an Add-on Order Form for the new test to be performed. Please reference the GeneDx accession #, patient's name and date of birth. You must also tell us how the add-on test will be paid for and where the invoice should be mailed. This request can be faxed or emailed to Robin at 301-519-2892 or robin@genedx.com.

Difference Between CopyDx^SM and GenomeDx

Q: CopyDx^SM and GenomeDx sound very similar. What are the similarities and differences between these two tests?
A:

• Both tests, CopyDxTM and GenomeDx, allow to determine how many copies a person carries for a certain gene.
• CopyDxTM is based on the use of quantitative PCR (qPCR) technology. This targeted assay can be used to identify a deletion or duplication of a single gene or a known partial gene deletion or duplication in a known gene of interest. It is possible to differentiate between a whole or partial gene deletion/duplication although the exact size/boundaries of the abnormality cannot be determined.
• GenomeDx is a specially designed, oligonucleotide microarray used for Comparative Genomic Hybridization (oligo aCGH). In one single assay, the entire genome is evaluated for chromosomal aneuploidy as well as regions of gains and losses. This test may establish the size and position of breakpoints of deletions or duplications in reference to individual genes, BAC or FISH clones, or microsatellite markers in the region. Technical limits apply and depend predominantly on the number and density of probes that are used.

Contact information

Q: What is your phone number? 
A: Our main number is: (301) 519-2100. Alternatively, you can email us at genedx@genedx.com.

Q: Can I speak to the person in charge of ordering supplies, marketing, etc. at GeneDx?
A: The easiest way to reach us at GeneDx is by email. Please send your question to genedx@genedx.com and it will be delivered to the appropriate person.

Certifications and important numbers

Q: What is your CLIA identification number?
A: Our CLIA identification number is 21D0969951.

Q: What is GeneDx's tax ID number?
A: 20-5446298

Q: Are you CAP certified?
A: No.

Q: Are your tests FDA-approved?
A: No. Our tests are developed and validated in-house and the FDA has determined that such clearance or approval is not necessary.

Q: Do you have a New York state license?
A: No, GeneDx does not hold a NY state license at this time, although we are currently working towards NY state licensure.

Q: Does GeneDx comply with the EU Safe Harbor Framework?
A: The company complies with the U.S.-EU Safe Harbor Framework as set forth by the U.S. Department of Commerce regarding the collection, use, and retention of personal information from European Union member countries. The company has certified that it adheres to the Safe Harbor Privacy Principles of notice, choice, onward transfer, security, data integrity, access, and enforcement. To learn more about the Safe Harbor program, and to view the company's certification, please visit http://www.export.gov/safeharbor/

Downloadable forms

Q: How can I open the downloadable forms from your site?
A: To view documents in PDF format, you need to install Adobe Acrobat Reader, a free application distributed by Adobe Systems.