General Questions 

BILLING & INSURANCE

Most insurance companies cover reproductive health testing; however, insurance coverage varies. We are sensitive to the costs associated with reproductive health testing and are committed to ensuring that every patient has access to our high-quality tests. Our care specialists will reach out if it is determined the testing ordered is a non-covered service.

Yes, we have a financial assistance program. We offer payment plans as well as a program based on patient’s income.

GENETIC COUNSELING

Yes, genetic counseling is available for your patients through Metis Genetics.

Healthcare providers may refer patients for genetic counseling by filling out the genetic counseling referral form.

Yes, Metis Genetics will send a copy of your patient’s genetic counseling summary report to you unless otherwise indicated.

Non-Invasive Prenatal Screening

Trisomy 21 (Down syndrome)

NIPS is the most sensitive and specific screening test available for Down syndrome. This means it has the highest reported detection rate and the lowest false-positive rate for Down syndrome as compared to historical traditional serum screening tests. Since it is a screening test, it cannot give a “yes” or “no” answer but reports if a pregnancy is at a higher or lower risk for the conditions being screened. Down syndrome is a chromosomal disorder that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the severity varies from mild to moderate intellectual disability. People with Down syndrome may have a variety of birth defects. About half of all affected children are born with a heart defect. The most common cause of Down syndrome is having an extra number 21 chromosome. The risk of having a baby with Down syndrome increases with maternal age; however, there is still a risk regardless of age or family history as the vast majority of cases are not inherited (passed down) in families.1

 

Trisomy 18 (Edwards syndrome)

Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. Due to the presence of several life-threatening medical problems, many individuals with trisomy 18 die before birth or within their first month. Five to 10 percent of children with this condition live past their first year, and these children often have severe intellectual disability. Trisomy 18 results from having an extra number 18 chromosome. The risk of having a baby with trisomy 18 increases with maternal age; however, there is still a risk regardless of age or family history as the vast majority of cases are not inherited (passed down) in families.2

 

Trisomy 13 (Patau syndrome)

Trisomy 13, also called Patau syndrome, is a chromosomal disorder associated with severe intellectual disability and physical abnormalities. Individuals with trisomy 13 often have congenital heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes, extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only 5 to 10 percent of children with this condition live past their first year. Trisomy 13 results from having an extra number 13 chromosome. The risk of having a baby with trisomy 13 increases with maternal age; however, there is still a risk regardless of age or family history as the vast majority of cases are not inherited (passed down) in families.3

Specimens used for NIPS are stable for 5 days. If it is within that timeframe, it may be possible to add on testing. If you would like to add on testing unrelated to NIPS, the appropriate tubes would have had to have been collected in order to accommodate that request.

  •  All testing requirements are available online at www.SonicReproductiveHealth.com/about/educational-resources or on the individual laboratory test directory.

  • 1 – 10ml Streck tube is required. Streck tubes are glass so special handling is required to ensure that the tube stays intact. A requisition must accompany the sample along with the appropriate patient consents.

Results from NIPS take approximately 5 days. If your provider ordered a more in-depth panel, results could take approximately 5-7 days.

A “low probability” result is the most common result among individuals who have NIPS. Low probability will be reported when there is a low possibility that the developing fetus has one of the specific chromosome conditions. NIPS does not screen for all genetic conditions and a low probability result does not guarantee that the developing fetus does not have the conditions screened for, or other conditions not included in your test result.

A “high probability” result will be reported when there is a difference in the expected amount of DNA that shows up in your blood sample. This means the developing fetus has a significantly increased chance of having one of the specific chromosome conditions. NIPS does not screen for all genetic conditions and a high probability result does not guarantee the fetus is affected. A number of unusual clinical conditions may cause a “false-positive” result, so all high probability results should be confirmed with diagnostic testing or other clinical information prior to medical decision making. Patients should be offered genetic counseling for high probability results.

NIPS results, like other screening tests, adjusts the patient’s a priori risk which includes their age-related risk. Since NIPS is still a screening test, it can only increase or decrease the patient’s risk for the conditions ordered. All results should be taken into consideration with the entire clinical picture and only diagnostic testing can provide a definitive answer.

The accuracy for fetal sex is greater than 99% for both singletons and twin gestations4. Discordant results can occur; however, they are rare. If you have additional questions, we encourage you to speak with your provider or schedule a genetic counseling session through Metis Genetics (see Metis question).

In some cases, results are unable to give accurate information about chromosome conditions or sex chromosome aneuploidy. This can be for many reasons, but most often occurs when there is not significant enough fetal DNA in the blood sample submitted to the lab. Most individuals that get a “No Result” do not have a baby with a chromosome condition. There are many factors that can contribute to this, including high weight, in vitro fertilization (IVF), twin pregnancy, or an early blood draw. Receiving a “No Result” should be further discussed with your patient to talk about their options and if the patient should have another test performed.

Contact with a medical team member can be provided through your account representative.

For the most accurate information regarding coverage and financial responsibility, patients may contact their insurance company. Additionally, patients may contact our Care Specialists to receive price estimates for carrier screening and non-invasive prenatal screening.

Contact our Care Specialists

Most insurance companies cover non-invasive prenatal screening (NIPS); however, insurance coverage varies. We are sensitive to the costs associated with planning a pregnancy and are committed to ensuring that every patient has access to our high-quality tests. Our care specialists will reach out if it is determined the testing ordered is a non-covered service.

Carrier Screening

The conditions included in our carrier screening program are:

  • Cystic fibrosis (CF)
  • Spinal muscular atrophy (SMA)
  • Fragile X
  • Hemoglobinopathies (inherited anemias)
    • Thalassemia diseases
    • Sickle cell disease
    • Other hemoglobin variants

 

Additional screening is available, for example, when both parents have Ashkenazi Jewish ancestry. We also offer Basic, Classic, and Complete Panels with varying numbers of genetic conditions included. Details are available on our carrier screening page.

Carrier Screening tests are stable for 7 days. If it is within that timeframe, it may be possible to add on testing. If you would like to add on testing unrelated to Carrier Screening, the appropriate tubes would had to have been collected in order to accommodate that request.

The average turnaround time for these tests is approximately 10-14 days.

A negative result means that your patient is unlikely to be a carrier for any of the conditions they were screened for. No further testing is generally needed. While this significantly reduces the risk for your patient to be a carrier, it does not eliminate the risk.

A positive result means that your patient is a carrier for that particular condition. Follow-up testing will be offered to the other parent to find out if the pregnancy is at risk. When both parents are carriers for the same condition, the baby is at increased risk to develop the condition. Additional testing will be offered to your patient to determine if the baby is affected should the other parent be found to also be a carrier of the same condition.

Contact with a medical team member can be provided through your account representative.

For the most accurate information regarding coverage and financial responsibility, patients may contact their insurance company. Additionally, patients may contact our Care Specialists to receive price estimates for carrier screening and non-invasive prenatal screening.

Contact our Care Specialists

Most insurance companies cover duo and trio carrier screening; however, insurance coverage varies. We are sensitive to the costs associated with planning a pregnancy and are committed to ensuring that every patient has access to our high-quality tests. Our care specialists will reach out if it is determined the testing ordered is a non-covered service.

References:

1. National Library of Medicine (US). Genetics Home Reference [Internet]. Bethesda (MD); the Library; 2017 Apr 18. Down syndrome; [reviewed 2012 Jun; cited 2017 Apr 20]. Available from: https://ghr.nlm.nih.gov/condition/down-syndrome.

2. National Library of Medicine (US). Genetics Home Reference [Internet]. Bethesda (MD); the Library; 2017 Apr 18. Trisomy 18; [reviewed 2012 Mar; cited 2017 Apr 20]. Available from: https://ghr.nlm.nih.gov/condition/trisomy-18.

3. National Library of Medicine (US). Genetics Home Reference [Internet]. Bethesda (MD); the Library; 2017 Apr 18. Trisomy 13; [reviewed 2013 Nov; cited 2017 Apr 20]. Available from: https://ghr.nlm.nih.gov/condition/trisomy-13.

4. VeriSeq NIPT Solution v2 Package Insert. Illumina In Vitro Diagnostic Instruction for Use. Document#1000000078751v06. August 2021.

5. Carrier screening for genetic conditions. Committee Opinion No. 691. American College of Obstetricians and Gynecologists. Obstet Gynecol 2017;129:e41–55.