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Testing for Fragile X and SMA

Dear Obstetrical Patients:

As your obstetricians we recommend appropriate testing for many conditions including genetic screening. The tests we recommend are those that have been decided upon by authoritative groups with tremendous expertise such as the American College of Obstetricians and Gynecologists and the National College of Genetics.  Many of these tests, because they are sanctioned by these official bodies, are covered by your health care insurance carrier routinely.

There are two tests that the majority of insurance carriers are not covering. These tests are Fragile X and SMA (spinal muscular atrophy).  Both of these tests look for fairly rare genetic abnormalities which, if present in both partners, can cause severe physical and/or mental defects in children.

While we recommend that all of our pregnant patients be tested for these two conditions, we have encountered many situations where after such tests are performed, the insurance carrier has denied to pay for them leaving our patient’s with a large, often in the thousand dollar range, bill from the Lab that does the testing.

We strongly suggest that prior to your visit and prior to when you have lab work drawn, you inquire of your insurance company whether or not they cover Fragile X and SMA testing. This is your responsibility as every insurance carrier is different and every plan within each insurance carrier is different. We cannot tell you specifically if your plan will cover these tests.  When you verify coverage for these tests,  you should write down the name of the person you spoke with for your records.  If these are not a covered benefits, you  have the option of paying for these test yourself or not having them drawn.  We would prefer to have your decision at your first prenatal visit but no later than your 12th  week.

Unfortunately, we as a medical practice are unable to change the policies of health insurance companies. We feel it only fair to let you know about this issue beforehand so that you can make arrangements accordingly.

These are the procedure code and the diagnostic code for the tests:

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Fragile X       81243   procedure code       * V22.0, v26.31 diagnosis code  
SMA              81401                                  *V22.0, v26.31                            

*V22.0 first pregnancy
*V22.1 for second pregnancy

The costs for these tests are in the $1000 to $1500 range – but this is just an estimate.

Your insurance carrier may tell you that these test will be covered if preauthorization is obtained.  Preauthorization is only given to patients with a diagnosis of personal history, family history, or documentation of genetic mutation.  Preauthorization does not guarantee of payment.

Both of these conditions—Fragile X and Spinal Muscular Atrophy—are, fortunately, very rare.

Up until the last couple of years these conditions were never tested for.  The advent of sophisticated new testing capabilities offers benefits but also presents these sorts of dilemmas:
How much money should one pay to diagnose a condition that it is extremely unlikely that you have?

Please let us know if you have any questions about the above information.  We want to do
every thing we can to make your pregnancy as safe as possible for you and your baby.

Henry Lerner M.D.
Newton-Wellesley Obstetrics and Gynecology

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