Guide to Genetic Testing

Aneuploidy Testing

Trisomy 21 (Down Syndrome), Trisomy 18, and Open Neural Tube Defects (Spina Bifida). You may choose one of the following options:

NIPT (Non-Invasive Prenatal Testing or Cell Free- Fetal DNA): This is a simple and accurate non-invasive prenatal screening blood test that offers results for early risk assessment of Down Syndrome (Trisomy 21), or Trisomy 18 and other aneuploidy conditions. The test also offers an optional analysis for fetal sex. The test analyzes the relative amount of 21, 18, 13, X and Y chromosome material in circulating cell-free DNA from a maternal blood sample. This test can be performed at any time after 10 weeks gestation. If you elect this test, you will also have an AFP (alpha-fetoprotein) blood test to test for open neural tube defects. Recommended follow up to a positive result is genetic counseling and prenatal diagnosis. CPT Codes: 81507, 84702 Approximate cost $825.

Sequential Screening with Nuchal Translucency: This is a two-step test to detect whether a fetus is at increased risk for trisomy 21, trisomy 18, and open neural tube defects. The test has a narrow window for testing (the first step must be performed between 10 and 13 weeks gestation). It includes two blood draws and an ultrasound. The ultrasound measures the amount of fluid behind the baby’s neck called the nuchal translucency (NT). The blood tests measures three different maternal hormone levels, — pregnancyassociated plasma protein (PAPP-A), human chorionic gonadotrophin (hCG), and dimeric inhibin A (DIA). These measurements in combination with some maternal information such as height and weight are used to calculate whether the baby is at increased risk for Down Syndrome or Trisomy 18. An alpha-fetoprotein test (AFP) is also included to test for open neural tube defects. Recommended follow up to a positive result is additional testing that is more definitive, and referral for genetic counseling and prenatal diagnosis. CPT Codes Part I: 84163, 84702, 76813. CPT Codes Part II 82677, 84702, 86336. Approximate Cost for both parts: $580

Quad Screen: This test is also known as the quadruple marker test. It is a test that measures levels of four substances in a pregnant woman’s blood—Alpha-fetoprotein (AFP), a protein made by the developing baby; Human chorionic gonadotrphin (hCG), a hormone made by the placenta; Estriol, a hormone made by the placenta and the baby’s liver; and Inhibin A, another hormone made by the placenta. Typically, the quad screen is done between weeks 15 and 20 of pregnancy—the second trimester, and the results indicate whether the baby is at higher risk for Down Syndrome (Trisomy 21), Trisomy 18, and open neural tube defects. This is a screening test. Recommended follow up to a positive result is additional testing that is more definitive, as well as referral for genetic counseling and prenatal diagnosis. CPT Codes: 82105, 84702, 86336, 82677. Approximate cost: $305

(FPR is False Positive Rate)

Additional Screening tests offered

Cystic Fibrisis: Cystic Fibrosis is the most common inherited disease of children and young adults. The carrier frequency is 1 in 24, to 1 in 97. Both parents need to be carriers for a child to be affected (25% chance). One in 3500 children born are affected. Cystic fibrosis is a disorder of mucus production and produces abnormally thick mucus leading to life threatening lung infections, digestion problems, poor growth, infertility, and more. Symptoms range from mild to severe, but individuals with severe disease may die in childhood. With treatments today, people with Cystic Fibrosis can live into their 30’s. CF does not affect intelligence. Recommended follow up to a positive result is testing of the baby’s father. CPT Code: 81220 Approximate Cost $800

Spinal Muscular Atrophy (SMA): SMA is the most common inherited cause of early childhood death. The carrier frequency is 1 in 47 to 1 in 72 in the US and both parents need to be carriers for a child to be affected (25% chance). 1 in 11,000 children are affected. SMA is a progressive degeneration of lower motor neurons. Muscle weakness is the most common type with respiratory failure by the age of 2 years old. Muscles responsible for crawling, walking, swallowing, and head and neck control are most severely affected. Recommended follow up to a positive result is testing of the baby’s father. CPT Code: 81401 Approximate Cost: $625

Fragile X Syndrome (the most common inherited cause of developmental delays): Fragile X syndrome is an “X-linked” genetic disease, which means it is only carried by the mom. Unfortunately, 1 in 250 females are carriers and a child has a 50% chance of being affected if this is the case. 1 in 4000 boys is affected with Fragile X and 1 in 8000 girls is affected. Approximately 1/3 of all children born with Fragile X also have autism and hyperactivity. Recommended follow up to a positive result is genetic counseling and prenatal diagnosis. CPT Code: 81243 Approximate Cost: $391.

Guide to Insurance Coverage for Genetic Screening

Please review this information and decide what testing if any you would like to have performed.

NIPT– Noninvasive PTesting (Cell-free fetal DNA) is among the newest and most sophisticated of techniques used to screen for certain genetic disorders. This testing involves direct examination of the DNA molecule itself. The Harmony or Verify test has 98-99% accuracy in detecting Trisomy 18, 21, and other chromosomal aneuploidies. However, it is also among the most expensive, and is not usually covered by insurance unless the patient is over the age of 35 and/or has a family history of genetic defects or a previous history of a child with a genetic abnormality.

It has been our experience that other available tests including both the Sequential Screen with Nuchal Translucency and Quad are covered by most insurance for most women. Testing for Cystic Fibrosis, SMA, and Fragile X testing is a covered benefit in many circumstances.

Coverage information

Due to the complexity of coverage guidelines, we are unable to quote benefits or guarantee insurance coverage for any of these tests. Insurance benefits are plan-specific and offer vastly different coverage based on your policy. The handout attached explains the benefits to each test, and also provides the billing (CPT) codes for each test.

Even if the testing is covered, it could be applied to any unmet deductibles, and copays may apply, resulting in a bill. You are encouraged to contact your insurance company to obtain your benefits based on your age and risk factors, so that there are no surprises. The laboratories will bill you separately for any testing.

For the following Government policies: Healthkeepers Plus (Medicaid), Anthem BCBS Federal policies, Virginia Premier, Virginia Medicaid and Tricare please ask the checkout staff for an estimate of coverage sheet.

The following are diagnosis codes that we may use, depending on your history:

Screening test of female genetic disease carrier status (no risk factors): V23.31
Advanced Maternal Age (over age 35 at the time of delivery), 1st pregnancy: V23.83
Advanced Maternal Age (over age 35 at the time of delivery), 2nd or subsequent pregnancy:
V23.82
Family History of Genetic Disease Carrier V18.9

Please contact your insurance company with the appropriate CPT code from the attached list, and diagnosis code applicable to your situation.

We ask that you review this information and decide what testing you would like to have performed. Please note that the Sequential Screening with Nuchal Translucency has a smaller window of time to be performed during pregnancy (between 10-13 weeks).