Arrangements to Make Before Testing

Arranging for any special testing involves several steps and specific paperwork. Making arrangements prior to the date of the blood draw can prevent frustrations and helps the process proceed smoothly.

Establish who will be the referring physician

A physician or other appropriate health care professional must refer (order) the test and be the recipient of the results from the laboratory. If you are a patient or relative and want testing for yourself or a family member, you should either a) obtain a referral to a clinical geneticist or b) discuss the test with your family practitioner or your child's pediatrician and arrange for him/her to be the referring physician. It is highly recommended that a genetic counselor be involved in each case (see The Importance of Genetic Counseling).

Choose a laboratory and ask for specific instructions

Special expertise and experience in fragile X testing are the most important criteria for selecting a laboratory for this testing. Interpretation of results is complex and can involve numerous subtleties. It is not necessary for the laboratory to be near you. It is common practice to mail samples and they are not hurt in any way by a day of transit. Before collecting a sample, call the laboratory to check exact sample requirements, shipping instructions and address.

Establish who will be billed for the testing service

The laboratory may offer a choice of billing the referring institution (e.g., hospital), the physician's practice, Medicaid, Medicare, the insurance company, or the patient directly. The person filling out the requisition forms (see section on forms below) should indicate to the lab how the service should be billed. The fee for fragile X DNA testing is usually in the range of ~$250 - $300. Discounts are sometimes available if payment is received with the sample.

Check if the insurance policy covers this test

Rules about coverage differ between insurance companies (or HMOs) and between policies within the same insurance company. The specific indication(s) for testing (and corresponding ICD9 codes) should be mentioned when inquiring about coverage. In general, more policies cover testing for diagnostic than for carrier identification purposes. It may be necessary to state the lab procedure codes (CPT codes). For fragile X testing in most labs these are 83890, 83892, 83894, 83896, 83898 and 83912. If coverage is promised, be sure to ask for a 'preapproval number'. Using this number on the claim can shorten the time to reimbursement. It is also important to check for any restrictions the insurance policy places on which lab can be used, since sometimes a contract with a specific lab is involved.

Obtain all referrals required by the insurance company or HMO

In many cases when a specialist orders a test, a referral is necessary from the primary care physician in order to gain reimbursement. When a referral is requested for an office visit with a specialist, it is important to extend the referral to include any required testing.

Fill out all necessary forms

It is customary for laboratories to require a completed test request (requisition) form and often a consent form. These should be sent to the lab with the sample to be tested. Clinical indications for testing and any family history information should be included. If the laboratory is to make the claim, include all insurance, Medicaid or Medicare information.

Annette K. Taylor, M.S., Ph.D.
Kimball Genetics, Inc.
101 University Boulevard, Suite 330
Denver, CO 80206
800-320-1807