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Evolve FamilyReady™ Carrier Screen

  1. What is carrier screening? 
  2. What does it mean to be a carrier? 
  3. What is an autosomal recessive disorder and what is an X-linked disorder?
  4. How severe are genetic disorders?
  5. Who should have carrier screening? 
  6. Are certain ethnicities more at risk of inherited genetic disorders?
  7. What professional societies recommend carrier screening? 
  8. How common is it to be a carrier of a genetic disorder?
  9. When is the best time to have the FamilyReady™ Carrier Screen?
  10. At what age should I consider taking Evolve FamilyReady™ Carrier Screens?
  11. Do I need a requisition form from a healthcare provider?
  12. How do I take the test?
  13. What is the turnaround time for results?
  14. How do I find out my results?
  15. If my partner and I are both carriers for the same genetic disorder what are the chances our children could have that genetic disorder?
  16. What are some of my options if my partner and I are carriers?
  17. Why would I want to know if I was a carrier?
  18. How does carrier screening help keep my future family healthy?
  19. I have a healthy family and no family history of a genetic disorder, do I still need carrier screening?
  20. If I am a carrier, are my relatives and close family members likely to be carriers as well?
  21. Are there any health conditions that can interfere with the accuracy of my Evolve FamilyReady™ Carrier Screen results?
  22. I already took the Evolve FamilyReady™ Carrier Screen. Will I ever need to be retested?
  23. What information will Evolve FamilyReady™ Carrier Screens provide?
  24. Why choose Evolve FamilyReady™ Carrier Screen? What makes it superior to other screens on the market?
  25. What is deletion/duplication analysis and why is it important?
  26. What is the accuracy of the Evolve FamilyReady™ Carrier Screen?
  27. What is the difference between the Evolve Genetic Fertility Screens and the Evolve FamilyReady™ Carrier Screen?
  28. Does Evolve FamilyReady™ Carrier Screen include Complimentary Genetic Counseling?

 

What is carrier screening?

Carrier screening is a type of personalized genetic testing that can help determine if you are a carrier of a genetic change or mutation in your DNA that could possibly lead to serious inherited genetic disorders in your children.  The genetic disorders detected with carrier screening are typically autosomal recessive disorders (ex. Cystic Fibrosis, Tay-Sachs Disease) or X-linked disorders (Fragile X syndrome, Duchene Muscular Dystrophy). These genetic disorders can significantly impact the health of a person and alter life expectancy.

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What does it mean to be a carrier?

Anyone can be a carrier of a genetic disorder.  In almost all cases carriers are healthy and free of symptoms, but they are at risk of passing on a genetic mutation to their children. If you and your partner are carriers for the same recessive disorder, then there is a 25% risk with every pregnancy to have a child affected with this recessive disorder.  If you are a female carrier of an X-linked disorder then there is a 50% risk with every pregnancy to have a child affected with this X-linked disorder depending on the child’s gender.

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 What is an autosomal recessive disorder and what is an X linked disorder?

We have 23 pairs of chromosomes: half are inherited from your mother and the other half are inherited from your father. Pairs 1-22 are considered the autosomal chromosomes. The 23rd pair of chromosomes are the sex chromosomes which determine your sex (XX is female, XY is male). Autosomal recessive disorders are caused by mutations on any of the autosomal chromosomes and X linked disorders are caused by mutations on the X chromosome.

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How severe are genetic disorders?

The genetic disorders screened for during carrier screening can severely affect the health of your children.  Many of the genetic disorders are life-threatening and cause both physical and intellectual disabilities with no access to curative treatments.  Other genetic disorders, although not life-threatening, can impact life by requiring chronic management with progressive symptoms, while others still may be managed early in life with treatment.  The crucial step is determining your carrier status in order to determine what genetic disorders your children may be at risk to inherit.

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Who should have carrier screening?

Everyone should have carrier screening, especially those who are pregnant or thinking of getting pregnant.  Approximately 24% of the general population is a carrier of at least one genetic disorder.  Your ethnicity alone can put you at an increased risk of being a carrier since some genetic disorders are more common in certain populations.

Example: Carrier frequencies for cystic fibrosis (a recessive lethal genetic disorder)

African American 1 in 61

Ashkenazi Jewish 1 in 24

Asian 1 in 94

European 1 in 25

Hispanic/Latino 1 in 58

Mediterranean 1 in 29

It is highly recommended that all couples with ANY Jewish ancestry, including interfaith couples, have carrier screening due to the significantly higher risk in this population being carriers for genetic disorders.

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Are certain ethnicities more at risk of inherited genetic disorders?

Yes, there is a greater risk to be a carrier of certain genetic conditions depending on your ethnic background. For example, individuals of Ashkenazi Jewish descent have an increased risk to be carriers of recessive genetic conditions such as Gaucher Disease and Tay-Sachs. Whereas, individuals of Asian and African-American descent have a greater risk to be carriers of hereditary forms of anemia such as Alpha-Thalassemia and Sickle Cell Anemia.

Even though certain ethnicities are more at risk for certain genetic conditions, carrier screening should be done by ALL individuals regardless of ethnicity since many individuals cannot state their ethnicity correctly and many individuals can have genetic information from multiple ethnicities as well.

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What professional societies recommend carrier screening?

Both the American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) recommend all women have some form of carrier screening if they are of reproductive age.  ACOG recently released recommendations that all women should be offered pre-pregnancy genetic screening, such as expanded carrier screening.  Other professional societies with policies recommending carrier screening include the National Society of Genetic Counselors (NSGC), the Perinatal Quality Foundation (PQF), and the Society for Maternal-Fetal Medicine (SFMF).

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How common is it to be a carrier of a genetic disorder?

The most commonly cited estimate is 24% of the general population is a carrier of a genetic disorder. However, with advancements in personalized genetic screening and worldwide availability of comprehensive pan-ethnic carrier screen panels this statistic may change with more data. Preliminary data from our Evolve FamilyReady Carrier Screen has shown that the general population carrier rate may be in significant excess of 24%.

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When is the best time to have the FamilyReady™ Carrier Screening?

Before a pregnancy is the best time to have carrier screening to help you plan and make informed decisions for the healthiest family possible. EvolveGene strongly recommends the FamilyReady™ Carrier Screen as a preconception or pre-IVF screen.  However, carrier screening is commonly performed during a pregnancy as well.

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At what age should I consider taking Evolve FamilyReady™ Carrier Screens?

Evolve FamilyReady™ Carrier Screen can be taken at any age, however it is of most use to individuals who are of reproductive age.

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Do I need a requisition form from a healthcare provider?

Yes, at EvolveGene we work with your healthcare provider to order a carrier screening kit for you.

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How do I take the test?

Either before or during a pregnancy, a simple saliva or blood test can determine your carrier status.  EvolveGene provides convenient sample collection kits for you and your healthcare provider to use.

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What is the turnaround time for results?

Results for carrier screening are available 2 weeks after your sample has been received by our laboratory.

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How do I find out my results?

When your results are ready, you will receive an email alert. Patient reports will be made available for you and your healthcare provider to review. A Board-Certified Genetic Counselor will also be available to you at no extra charge to answer any of your questions and review your results.

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If my partner and I are both carriers for the same genetic disorder what are the chances our children could have that genetic disorder?

If you and your partner are both carriers of the same autosomal recessive disorder (e.g. Cystic Fibrosis, Sickle Cell Anemia, or Tay-Sachs Disease, etc.) then with every pregnancy there is a:

  • 25% chance of your child having the genetic disorder
  • 50% chance of your child being a carrier like you and your partner
  • 25% chance of your child neither having the disorder nor being a carrier

If the mother is a carrier of an X linked disorder (i.e. Fragile X syndrome, or Duchene Muscular Dystrophy) then only the mother needs to be a carrier to pass the disorder onto her children. Boys receive their X chromosome from their mother and their Y chromosome from their father. Therefore, if the carrier mother gives her son the X chromosome with the mutation then the son will have that disease. If the carrier mother gives her daughter the X chromosome with the mutation, then the daughter will be a carrier of the disorder like her mother.

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What are some of my options if my partner and I are carriers?

Our Board-Certified Genetic Counselors can speak with you and your healthcare providers to better explain the Evolve FamilyReady™ Carrier Screen and the genetic disorder or disorders you are at risk of passing onto your child. Your healthcare provider can then work with you and your partner regarding your reproductive options.

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Why would I want to know if I was a carrier?

A large portion of the general population are unknowingly healthy carriers of a genetic disorder. If both parents are carriers of the same autosomal recessive disorder then there is a 25% chance for each of their children to be affected with this disorder If a mother is a carrier of an X-linked disorder then there is a 50% chance each of her children will be affected with the disorder depending on their gender.

The Evolve FamilyReady™ Carrier Screen is both comprehensive: for the most relevant genetic disorders across all ethnicities, and accurate: with detection rates in excess of 99%. This valuable information will allow you and your partner to know if your child is at risk to have a serious genetic disorder prior to conception. This knowledge will enable you to be prepared and be proactive about the future health of your family.

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How does carrier screening help keep my future family healthy?

Knowing that a child is at risk for a genetic disorder can allow a family to make appropriate management plans. For example, phenylketonuria (PKU) is a genetic disorder that can lead to severe intellectual disabilities and potentially death if not treated. Many countries have developed newborn screening (NBS) programs to screen for genetic conditions such as PKU during the first week of life. However, if parents know their carrier status’ and know their child is at risk for a genetic disorder, they can save time, and establish a diagnosis either prenatally or earlier during the newborn period in order to begin treatment to prevent complications from the disease.

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I have a healthy family and no family history of a genetic disorder, do I still need carrier screening?

Yes, having a healthy family does not necessarily mean that you and your partner are not carriers of a genetic disorder. Most people who have a child with a recessive disorder do not have a family history of the condition. In fact 80% of children born with a recessive genetic disorder have no family history of that disorder.

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If I am a carrier, are my relatives and close family members likely to be carriers as well?

If you are a carrier, then yes it is more likely that your family members are also carriers for the same disorder.

You received your genetic mutation from either your mother or father. Therefore, your parents and grandparents should consider testing to determine which side of the family the genetic mutation was inherited from.

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Are there any health conditions that can interfere with the accuracy of my Evolve FamilyReady™ Carrier Screen results?

A history of bone marrow transplantation or recent blood transfusions can limit our ability to provide accurate results. We also advise waiting at least two months after undergoing a blood transfusion procedure before proceeding with the FamilyReady™ Carrier Screen.

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I already took the Evolve FamilyReady™ Carrier Screen. Will I ever need to be retested?

You should consider retaking the Evolve FamilyReady™ Carrier Screen if you have a different partner for a pregnancy or if you took the test several years ago. The Evolve FamilyReady™ Carrier Screen is updated with additional genetic disorders and mutations to keep pace with advancing research; we recommend if your results are more than 2 years old to repeat the carrier screen.

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What information will Evolve FamilyReady™ Carrier Screens provide?

EvolveGene offers the most accurate and comprehensive genetic carrier screening of the most relevant disorders for all ethnic groups to give you reliable results and bring you one step closer to a healthy future.

Evolve FamilyReady™ Carrier Screen – Testing of genes for the most advanced and complete in-depth genetic assessment of carrier screening available. Determine your genetic carrier status today!

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Why choose Evolve FamilyReady™ Carrier Screen? What makes it superior to other screens on the market?

Evolve FamilyReady™ Carrier Screen was developed by leading geneticists for reliable and advanced personalized genetic screening of the most medically relevant genetic disorders across all ethnicities. What makes the Evolve FamilyReady™ Carrier Screen superior to other competitors on the market is the fact that we perform 2 types of analysis [Next Generation Sequencing (NGS) Mutation Analysis and array Comparative Genomic Hybridization (CGH) Deletion/ Duplication Analysis] in the same screen. This provides a much more complete and comprehensive look at your genes and makes Evolve FamilyReady™ the most accurate carrier screen on the market.

By including Deletion/Duplication Analysis on our screening panel, at no additional cost, EvolveGene is providing you increased reliability and superior results. Deletion/Duplication Analysis is routinely offered as a reflux test, at an additional cost, after a negative result on the initial screening test. Don’t waste your valuable time and money with less accurate carrier screens…start with the one best test with the Evolve FamilyReady™ Carrier Screen.

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What is deletion/duplication analysis and why is it important?

EvolveGene is the only genetic screening company that includes array Comparative Genomic Hybridization (CGH) Deletion/Duplication Analysis as part of the FamilyReady™ Carrier Screen. Deletion/Duplication Analysis is a critical 2nd step of carrier screening. Deletion/Duplication Analysis evaluates genes with a different technical method to provide results on large deletions or duplications of genetic material that would be missed with only traditional carrier screening. This analysis improves the detection rate of disease causing mutations: for some genes the accuracy increases to 99%! Evolve FamilyReady™ Carrier Screen provides two tests in one and is the most accurate carrier screening available on the market.

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What is the accuracy of the Evolve FamilyReady™ Carrier Screen?

Evolve FamilyReady™ Carrier Screen is an advanced genetic carrier screen for the most relevant disorders for all ethnicities utilizing cutting-edge technologies. The FamilyReady™ Carrier Screen analyzes genes with Next Generation Sequencing (NGS) and array Comparative Genomic Hybridization (CGH) Deletion/Duplication Analysis. NGS has accurate detection rates with >99% analytical sensitivity and false negative rates of <1%. Array CGH technology allows for a critical 2nd step of analyzing select genes for large genomic deletions and duplications that would be missed by traditional carrier screening methods. The FamilyReady™ Carrier Screen also includes highly precise Fragile X Analysis which can detect 100% of CGG repeat expansions and Spinal Muscular Atrophy Analysis for the most common SMN1 mutation found in 95% of individuals with SMA.

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What is the difference between the Evolve Genetic Fertility Screens and the Evolve FamilyReady™ Carrier Screen?

Evolve Genetic Fertility Screens are designed specifically for those individuals with a personal or family history of fertility issues to assess their genetic risks for infertility. Evolve FamilyReady™ Carrier Screen is designed for both males and females to determine if either are carriers of genetic disorders that could impact their children. Thus, to determine genetic causes of infertility, use the Evolve Genetic Fertility Screens; when determining the risk of a genetic disorder in children, use the Evolve FamilyReady™ Carrier Screen. Results from either the Evolve Genetic Fertility Screens and the Evolve FamilyReady™ Carrier Screen can impact reproductive management options including pre-IVF care to improve the chances of a successful pregnancy.

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Does Evolve FamilyReady™ Carrier Screen include Complimentary Genetic Counseling?

Yes, each Evolve FamilyReady™ Carrier Screen has available complimentary pre- and post- screen genetic counseling with a Board-Certified Genetic Counselor.

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Evolve EarlyPregnancy™ Screen

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  1. What is Non-Invasive Prenatal Testing (NIPT)?
  2. How does NIPT work?
  3. What are chromosome abnormalities?
  4. How severe are chromosome abnormalities?
  5. Who should have NIPT?
  6. Can NIPT be used in pregnancies of multiples?
  7. What professional societies recommend NIPT?
  8. When is the best time to have EarlyPregnancy™ Screening?
  9. Do I need a requisition form from a healthcare provider?
  10. What happens if a physician suspects a pregnancy of twins and wants to order the Evolve EarlyPregnancy™ Screen?
  11. How do I take the test?
  12. What is the turnaround time for results?
  13. How do I find out my results?
  14. Why should I have NIPT instead of traditional prenatal screening?
  15. What are my next steps if I have a “high risk” result?
  16. What are my next steps if I have a “low risk” result?
  17. What information will the EarlyPregnancy™ Screen provide?
  18. Why is Evolve EarlyPregnancy Screen superior to other NIPTs on the market?
  19. Why is Whole Genome Sequencing (WGS) better than other sequencing (i.e. targeted) for NIPT?
  20. What is the accuracy of Evolve EarlyPregnancy Screen?
  21. Is the Evolve EarlyPregnancy™ Screen an NIPT applicable to pregnancies achieved with egg donors?
  22. What is the difference between the Evolve FamilyReady Carrier Screen and the Evolve EarlyPregnancy Screen?
  23. Does Evolve EarlyPregnancy Screen include Complimentary Genetic Counseling?

 

What is Non-Invasive Prenatal Testing (NIPT)?

NIPT is a method to screen for specific chromosome abnormalities without risk of miscarriage or harm to your baby. It delivers safe and reliable information about the health status of your baby during pregnancy as early as 10 weeks with a simple blood test from the mother.

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How does NIPT work?

By 10 weeks in a pregnancy, approximately 10% of the cell-free DNA found circulating in the mother’s blood stream comes from the baby. This is sufficient genetic material to screen for the likelihood of your baby having a chromosome abnormality.

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What are chromosome abnormalities?

Chromosome abnormalities occur when there is a numerical or structural change in a person’s chromosomes. Numerical changes include extra or missing chromosomal numbers which deviate from the normal 46 chromosomes in each cell. Examples of numerical chromosomal changes include trisomy 21 (i.e. Down syndrome), in which a person has an extra chromosome 21 and Klinefelter syndrome, in which a male has an extra X chromosome.

Structural changes deal with rearrangements or abnormalities with may impact one part of a chromosome in particular, such as a deletion on chromosome 4. Many structural chromosomal changes are referred to as microdeletion syndromes and are screened for during NIPT.

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How severe are chromosome abnormalities?

Chromosome abnormalities have major genetic consequences and can impact everything from a person’s IQ level to whether they will have infertility.

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Who should have NIPT?

NIPT should be offered to ALL women early in pregnancy. NIPT is particularly suitable for pregnant women with the following indications:

  • Maternal age-related risks
  • Abnormal serum screen or ultrasonographic findings
  • Family history of chromosome abnormalities
  • Pregnancies conceived through IVF or with ART

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Can NIPT be used in pregnancies of multiples?

NIPT is currently validated for use in only singleton and twin pregnancies.

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What professional societies recommend NIPT?

Both the American Congress of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) recommend NIPT as part of the screening options for all pregnancies to allow each person to make informed choices based on their values and goals. Other professional societies with policies recommending NIPT include the American College of Medical Genetics (ACMG) and the National Society of Genetic Counselors (NSGC).

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When is the best time to have EarlyPregnancy Screening?

Evolve EarlyPregnancy Screen can be used as early as the 10th week of pregnancy.

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Do I need a requisition form from a healthcare provider?

Yes, at EvolveGene we work with your healthcare provider to order an EarlyPregnancy Screen kit for you.

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What happens if a physician suspects a pregnancy of twins and wants to order the Evolve EarlyPregnancy™ Screen?

If your physician is suspicious that you are carrying a twin pregnancy, please ensure the requisition form is completed for the twin pregnancy selection in order to notify EvolveGene to adequately perform your NIPT.

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How do I take the test?

The EarlyPregnancy™ Screen requires just one routine blood draw tube from the expectant mother and can be administered as early as 10 weeks gestational age. EvolveGene provides convenient sample collection kits for you and your healthcare provider to use.

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What is the turnaround time for results?

Results from the EarlyPregnancy™ Screen are available 5-7 days after your sample has been received by our laboratory.

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How do I find out my results?

When your results are ready, you will receive an email alert. Patient reports will be made available for you and your healthcare provider to review. A Board-Certified Genetic Counselor will also be available to you at no extra charge to answer any of your questions and review your results.

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Why should I have NIPT instead of traditional prenatal screening?

NIPT provides significantly better risk indication than traditional prenatal screening and is quickly becoming standard of care for all women during a pregnancy. Traditional prenatal screening often involves a series of blood draws throughout a pregnancy to establish a risk for chromosome abnormalities. NIPT only involves one blood draw and can be completed during the first trimester. NIPT also results in fewer false positives than traditional prenatal screening which decreases the need for risky invasive procedures.

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What are my next steps if I have a “high risk” result?

A high risk EarlyPregnancy™ Screen result can guide you through the next steps in your prenatal care. It is recommended that no irreversible clinical decisions be made based on these screening results alone. The option of confirmatory diagnostic testing (e.g. amniocentesis) is an important follow-up discussion for you and your healthcare provider.

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What are my next steps if I have a “low risk” result?

A low risk EarlyPregnancy™ Screen result significantly reduces the risk for a chromosome abnormality in your pregnancy without undergoing invasive diagnostic procedures.

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What information will the EarlyPregnancy Screen provide?

Evolve EarlyPregnancy™ Screen determines if a pregnancy has an elevated risk for the most common chromosomal abnormalities including Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome).  Additional information on sex chromosome disorders, selected microdeletions and other aneuploidies (T9, T16) is also available upon request.

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Why is Evolve EarlyPregnancy™ Screen superior to other NIPTs on the market?

The EarlyPregnancy™ Screen is powered by the deepest massively parallel whole genome sequencing (WGS) approach with high detection rates for chromosome aneuploidies and the lowest technical failure rate in the industry at 0.1%. Having a low technical failure rate allows for more reliable results, fewer redraws of samples, and faster turn-around times than other NIPT providers.

The EarlyPregnancy™ Screen is also the most convenient NIPT for pregnant women to choose. EvolveGene offers one of the only NIPT’s on the market that requires only one tube of blood for analysis instead of multiple tubes.

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Why is Whole Genome Sequencing (WGS) better than other sequencing (i.e. targeted) for NIPT?

WGS methods are more comprehensive than targeted methods because WGS includes analysis of the entire genomic region rather than only specific, “targeted”, regions. WGS also allows for the ability to easily add new content to the test menu since it captures all genomic data; whereas in targeted methods there is a limited ability to add any new content without having to change the test itself.

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What is the accuracy of Evolve EarlyPregnancy™ Screen?

The Evolve EarlyPregnancy™ Screen is a highly accurate NIPT with a superior analysis algorithm. Detection rates for chromosome abnormalities, such as Down syndrome (Trisomy 21) is greater than 99% with false positive rates of 0.2%. Clinical data for use of the EarlyPregnancy™ Screen in twin pregnancies resulted in false positive <0.1% for the most prevalent chromosome trisomies.

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Is the Evolve EarlyPregnancy™ Screen an NIPT applicable to pregnancies achieved with egg donors?

Yes. The Evolve EarlyPregnancy™ Screen is one of the only NIPT service providers that can be used in pregnancies achieved with egg donors.

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What is the difference between the Evolve FamilyReady™ Carrier Screen and the Evolve EarlyPregnancy™ Screen?

Evolve FamilyReady™ Carrier Screen is designed for both males and females to determine if either are carriers of genetic disorders that could impact their children. Evolve EarlyPregnancy™ Screen is specifically designed to screen for multiple chromosome abnormalities that could be affecting a current pregnancy. Thus, the FamilyReady™ Carrier Screen is best used before a pregnancy to determine if children will be at risk for any genetic disorders; while the EarlyPregnancy™ Screen is used during a pregnancy after 10 weeks gestation to screen for chromosome abnormalities that may be present after conception.

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Does Evolve EarlyPregnancy™ Screen include Complimentary Genetic Counseling?

Yes, each Evolve EarlyPregnancy™ Screen has available complimentary pre- and post- screen genetic counseling with a Board-Certified Genetic Counselor.

 

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Evolve Fertility Screens

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  1. What is genetic fertility screening?
  2. How much can your genetics affect your infertility?
  3. Who should have genetic fertility screening?
  4. What is chromosome analysis and why is it important?
  5. What is Premature Ovarian Aging or Failure? Why is it important to infertility?
  6. What is Fragile X? Why is it important to infertility?
  7. Do clinics or healthcare providers currently analyze genetic factors of infertility or offer this type of screening?
  8. What professional societies recommend fertility screening?
  9. When is the best time to have Evolve Fertility Screens?
  10. At what age should I consider taking Evolve Fertility screens?
  11. At what age should I consider taking the Evolve POF screens?
  12. Do I need a requisition form from a healthcare provider?
  13. How do I take the test?
  14. What is the turnaround time for results?
  15. How do I find out my results?
  16. Why should Evolve Fertility Screens be utilized as Pre-IVF /Preconception Screens?
  17. What are my next steps if I have a positive result?
  18. What information will Evolve Fertility Screens provide?
  19. Why are Evolve Fertility Screens superior to other screens on the market?
  20. What is the accuracy of Evolve Fertility Screens?
  21. Can the Evolve Fertility Screens be used to detect mosaicism of chromosome disorders? For example, in the case of a chromosomal disorder such as Klinefelter syndrome, will it be possible to detect if the individual is mosaic?
  22. What is on average the lowest percentage of mosaicism that the Evolve Male and Female Fertility Screens will be able to detect?
  23. What is the Evolve POF screen?
  24. What is the accuracy of Evolve POF Screen?
  25. Can Evolve Fertility Screens replace the need for a polar body biopsy?
  26. If I perform the Evolve Female Fertility Screen do I still need to perform Evolve EarlyPregnancy™ Screen during pregnancy?
  27. What is the difference between the Evolve Fertility Screens and the Evolve FamilyReady™ Carrier Screen?
  28. Do Evolve Fertility Screens include Complimentary Genetic Counseling?

 

What is genetic fertility screening?

Genetic fertility screening is a type of personalized genetic testing that determines genetic causes of infertility in males and females.  Known genetic causes for infertility include chromosomal abnormalities and genetic mutations. Genetic fertility screening can improve the chances of reproductive & IVF success and help provide personalized treatment plans.

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How much can your genetics affect your infertility?

It has been estimated that 50% of infertility cases could have a genetic factor. Fertility genetic screening is the missing puzzle piece of the infertility puzzle. Evolve genetic fertility screens can improve IVF success rates and provide valuable knowledge and insight to you and your healthcare provider regarding your fertility health.

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Who should have genetic fertility screening?

Any female with a personal history of infertility, an elevated follicle-stimulating hormone (FSH) level before age 40 (without a known cause), or a family history of ovarian failure should have fertility screening.

Any male with personal history of infertility, abnormal sperm parameters on semen analysis, or a family history of male infertility should have fertility screening.

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What is chromosome analysis and why is it important?

Chromosome analysis (also known as karyotyping) is a test that evaluates the number and structure of a person’s chromosomes in order to detect abnormalities.

It is included in both Evolve’s Male and Female fertility screen as a key component to infertility testing since structural chromosomal abnormalities are the most common genetic cause of infertility. An infertility genetic screen in incomplete without including a complete chromosome analysis.

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What is Premature Ovarian Aging or Failure? Why is it important to infertility?

There is a natural decline in ovarian function as a women ages. However, many women have premature aging of the ovaries and this premature aging can occur in as early as a women’s early to mid-20’s. With premature ovarian aging (POA) a women will have a decreased fertility due to a decrease low or sub-optimal number of eggs and poor quality of eggs. Smaller number of lower-quality eggs reduce women’s fertility in two ways: they make it more difficult to get pregnant, and once pregnant, miscarriage are more likely to occur.

Premature Ovarian Failure occurs when ovaries prematurely stop making eggs. Normally this occurs in a women’s 40 during menopause.

Genetic abnormalities are a significant risk factor for developing POA/POF. It has been estimated that 10-30% of POF cases are due to a genetic abnormality.

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What is Fragile X? Why is it important to infertility?

The FMR1 (Fragile X Mental Retardation 1) gene is located on the X chromosome. It is of importance to women because not only does the FMR1 premutation put women at significant risk for premature ovarian failure and other fertility issues but are also at an increased risk of having a child with Fragile X syndrome.

Fragile X syndrome is a genetic disorder that causes intellectual disability and various physical and behavioral abnormalities. It is the most common cause of inherited autism in children.

Therefore, the FMR1 premuation puts millions of women at risk of infertility and most have never even heard of it. 1 in 150 women are estimated to be carriers of the FMR1 premutation.

The Evolve Female Fertility Screen and the Evolve POF screen both analyze the FMR1 gene. Evolve’s screens will detect ALL CASES of FMR1 (Fragile X) premutation.

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Do clinics or healthcare providers currently analyze genetic factors of infertility or offer this type of screening?

Currently clinics and healthcare providers will only look at genetic factors after multiple IVF or fertility failures and many will not take genetics into consideration. By having this information at the onset of your fertility journey you and your healthcare provider will have the information needed to make better and more informed decisions for better outcomes.

EvolveGene® is the leader in fertility genetic screening and offers the most reliable and comprehensive male and female genetic screens on the market.

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What professional societies recommend fertility screening?

The American Congress of Obstetricians and Gynecologists (ACOG) and the American Society for Reproductive Medicine (ASRM) both have policies and recommendations for genetic fertility screening in males and females.

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When is the best time to have Evolve Fertility Screens?

Evolve Fertility Screens are most useful when offered to patients before they undergo IVF or other fertility treatments. These screens should be offered as part of the initial diagnostic evaluation of the patient in a Pre-IVF consultation. Evolve Fertility Screens will reveal genetic contributions to infertility that cannot be detected by a physical exam of the patient.

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At what age should I consider taking Evolve Fertility screens?

Your genetics does not change with age therefore Evolve genetic fertility screens can be taken at any age. However, they are recommended as pre-conception or- pre-IVF screens for individuals of reproductive age.

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At what age should I consider taking the Evolve POF screens?

The Evolve POF screen can be taken as early as a women’s early 20’s to determine if she is at risk of developing premature ovarian aging or failure. However, the screen can be taken at any age, but is of most use to women of reproductive age.

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Do I need a requisition form from a healthcare provider?

Yes, at EvolveGene® we work with your healthcare provider to order a fertility screening kit for you.

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How do I take the test?

A simple blood test is needed for fertility screening.  EvolveGene® provides convenient sample collection kits for you and your healthcare provider to use.

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What is the turnaround time for results?

Our results for fertility screening are available three-four weeks after your sample has been received by our laboratory.

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How do I find out my results?

When your results are ready, you will receive an email alert. Patient reports will be made available for you and your healthcare provider to review. A Board-Certified Genetic Counselor will also be available to you at no extra charge to answer any of your questions and review your results.

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Why should Evolve Fertility Screens be utilized as Pre-IVF /Pre-Conception Screens?

Infertility affects 1 in 6 couples worldwide and the number of couples going through IVF has increased drastically in the last 10 years. Your genetic makeup plays a significant role in your fertility and it only makes sense that a complete genetic workup should be part of the standard fertility patient evaluation.

Genetic fertility screening can improve the chances of reproductive & IVF success and help provide personalized treatment plans.

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What are my next steps if I have a positive result?

By understanding if there is a genetic component to you and/or your partner’s infertility you and your healthcare provider will have answers to questions that previously would have gone unanswered. Evolve Fertility screen results will help enable clinicians to proactively devise appropriate management guidelines and effective treatments for patients before experiencing costly and time consuming setbacks from failed fertility treatments.

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What information will Evolve Fertility Screens provide?

EvolveGene® offers distinct male and female fertility screens, bringing actionable results to help improve your chances of reproductive success.

Male Fertility Screen

  • Mosaic chromosomal analysis + Y chromosome deletion + Mutation analysis of genes associated with major male infertility issues

Female Fertility Screen

  • Mosaic chromosomal analysis + Mutation analysis of genes associated with major female infertility issues + FMR1 repeat analysis

Premature Ovarian Failure Screen

  • Mutation analysis of genes associated with low or poor amounts of ovarian eggs + FMR1 repeat analysis

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Why are Evolve Fertility Screens superior to other screens on the market?

EvolveGene® is built on 25+ years of expertise in the field of human reproductive medicine with a scientific team of world leading embryologists, geneticists and fertility experts. Through collaboration with our network of leading fertility and IVF clinics; EvolveGene® is committed to providing innovative, reliable, and comprehensive genetic fertility screening.

The Evolve Female Fertility Screen combines three testing methodologies in one complete screening package to save you both time and money.

This screen includes FMR1 (Fragile X) trinucleotide repeat analysis, Next Generation Sequencing (NGS) of genes highly associated with female infertility in addition to a complete chromosome analysis.

The Evolve Male Fertility Screen combines three testing methodologies in one complete screening package to save you both time and money.

This screen includes Y chromosome deletion analysis, NGS of genes highly associated with male infertility in addition to a complete chromosome analysis.

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What is the accuracy of Evolve Fertility Screens?

NGS for Evolve Fertility Screen gene panels has accurate detection rates with >99% analytical sensitivity and false negative rates of <1%. In addition, all cases of FMR1 premutation expansion mutations will be detected by this testing for females; and >99% of Y chromosome deletions will be detected in males.

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Can the Evolve Fertility Screens be used to detect mosaicism of chromosome disorders? For example, in the case of a chromosomal disorder such as Klinefelter syndrome, will it be possible to detect if the individual is mosaic?

The Evolve Male and Female Fertility Screens can be used to detect mosaicism of chromosome disorders, such as Klinefelter syndrome, with a detection rate and sensitivity of ~99%.

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What is on average the lowest percentage of mosaicism that the Evolve Male and Female Fertility Screens will be able to detect?

On average the lowest percentage of mosaicism that the Evolve Male and Female Fertility Screens can detect is 6%.

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What is the Evolve POF screen?

Evolve POF screen will help you and your healthcare provider if you are at risk for premature decline of your ovarian function.

The Evolve POF screen includes mutation analysis of genes associated with low or poor amounts of ovarian eggs + FMR1 (Fragile X) trinucleotide repeat analysis.

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What is the accuracy of Evolve POF Screen?

The Evolve POF Screen is a highly specialized and advanced genetic screen for women with a family history of POF or features of POF. The POF Screen includes accurate detection for 100% of CGG repeat expansions that can cause POF and Fragile X Syndrome and NGS technology with >99% analytical sensitivity and false negative rates of <1% for the remaining genes on the panel.

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Can Evolve Fertility Screens replace the need for a polar body biopsy?

Evolve Fertility Screens for males and females assess the chromosome status of the parents and do not replace the need for a polar body biopsy which assesses the chromosome status of an embryo. Although the chromosome status of the parents may have some influence to an aneuploidy oocyte, chromosome aneuploidy may still arise during the initial stages of the development of the 1st and 2nd polar bodies. Evolve Fertility Screens are best suited for individuals who want to determine genetic factors that may be impacting their fertility or potentially passing on a genetic disease before IVF is performed.

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If I perform the Evolve Female Fertility Screen do I still need to perform Evolve EarlyPregnancy™ Screen during pregnancy?

Yes, because the Evolve Female Fertility Screen looks for different genetic disorders than the Evolve EarlyPregnancy™ Screen each test is important to perform independently. Evolve Female Fertility Screen assesses a female’s personal genetic factors that can impact fertility. Evolve EarlyPregnany™ Screen detects whether chromosome genetic disorders, such as Down syndrome, that are suspected during a pregnancy. Consider having the Evolve Female Fertility Screen before a pregnancy either as a pre-IVF or pre-conception tool, or the Evolve EarlyPregnancy™ Screen during a pregnancy as a prenatal test.

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What is the difference between the Evolve Fertility Screens and the Evolve FamilyReady™ Carrier Screen?

Evolve Genetic Fertility Screens are designed specifically for those individuals with a personal or family history of fertility issues to assess their genetic risks for infertility. Evolve FamilyReady™ Carrier Screen is designed for both males and females to determine if either are carriers of genetic disorders that could impact their children. Thus, to determine genetic causes of infertility, use the Evolve Genetic Fertility Screens; when determining the risk of a genetic disorder in children, use the Evolve FamilyReady™ Carrier Screen. Results from either the Evolve Genetic Fertility Screens and the Evolve FamilyReady™ Carrier Screen can impact reproductive management options including pre-IVF care to improve the chances of a successful pregnancy.

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Do Evolve Fertility Screens include Complimentary Genetic Counseling?

Yes all three Evolve Fertility Screens (Male, Female, POF) include complimentary pre- and post- screen genetic counseling with a Board Certified Genetic Counselor if requested by the patient or healthcare provider.

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Billing & Support

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  1. Which catalogue codes are used for the Evolve Genetic Carrier Screens?
  2. Which catalogue codes are used for the Evolve EarlyPregnancy™ Screen?
  3. Which catalogue codes are used for the Evolve Fertility Screens?
  4. What are ICD-10 codes?
  5. What are CPT (Current Procedure Temrinology) codes?
  6. What are the CPT codes for Evolve Screens?
  7. Who can I contact for support on billing issues?
  8. How are orders registered?
  9. Can screens be ordered without a healthcare provider?
  10. Can healthcare providers order multiple screening kits for their clinics?
  11. How are sample kits sent back to Evolve?
  12. What is a genetic consultation?
  13. How can I schedule a genetic consultation?
  14. Does Evolve offer genetic consultations in different languages?
  15. Can you tell me more about international orders and consults?

 

Which catalogue codes are used for the Evolve Genetic Carrier Screens?

Evolve Genetic Carrier Screens can be ordered based on our catalog codes below.

Evolve FamilyReady™ Carrier Screen………….Cat #CFRS

Evolve Ashkenazi Jewish Carrier Screen…….Cat #CAJS

Evolve ACOG/ACMG Carrier Screen…………Cat #ACOG

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Which catalogue codes are used for the Evolve EarlyPregnancy Screen?

Evolve Genetic NIPT Screens can be ordered based on our catalog code below.

Evolve EarlyPregnancy™ Screen………………Cat #NIPT

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Which catalogue codes are used for the Evolve Fertility Screens?

Evolve Genetic Fertility Screens can be ordered based on our catalog codes below.

Evolve Male Fertility Screen…………………..Cat #MFGS

Evolve Female Fertility Screen………………..Cat #FFGS

Evolve Premature Ovarian Failure Screen…..Cat #FPOF

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What are ICD-10 codes?

The World Health Organization created the International Classification of Disease, tenth revision (ICD-10) as a system of coding for medical records including diseases, symptoms, and abnormal findings.  These standards are accepted throughout the healthcare industry for a diagnostic coding system.

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What are CPT (Current Procedure Temrinology) codes?

CPT codes are identifying codes given to a medical/diagnostic procedure that describes the services rendered. These codes are used by hospitals, physicians, and healthcare providers to communicate procedures or tests ordered to your insurance carrier.

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What are the CPT codes for Evolve Screens?

FamilyReady Carrier Screening

81161 x1, 81200 x1, 81205 x1, 81209 x1, 81220 x1, 81222 x1, 81243 x1,

81251 x1, 81304 x1, 81330 x1, 81332 x1, 81400 x1, 81401 x1, 81404 x1

Evolve Female Fertility Screens

81243 x1

Evolve Male Fertility Screens

81220 x1, 81224 x1, 81403 x1, 81479 x1

Evolve EarlyPregnancy Screen

81420 x1

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Who can I contact for support on billing issues?

Please contact us at support@EvolveGene.com or Chat at EvolveGene.com if you have questions regarding billing.

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How are orders registered?

After a screening kit is ordered, a healthcare provider submits a requisition form to Evolve and a patient registers the kit through our online portal on EvolveGene.com prior to sample collection.

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Can screens be ordered without a healthcare provider?

No, each Evolve Screen is a clinical laboratory test that requires a healthcare provider’s  approval prior to screening under current laws and regulations.

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Can healthcare providers order multiple screening kits for their clinics?

Yes, you can order multiple screening kits for your clinics.  A patient could then purchase a kit directly in clinic when needed.

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How are sample kits sent back to Evolve?

To send sample kits back to Evolve, please enclose kit inside the prepaid envelope to ensure free shipping to our laboratory.

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What is a genetic consultation?

Evolve genetic consultations ensure you have access to expert and compassionate services.  During consultations, your results will be explained in the context of your fertility, family, and medical history.  Genetic counselors see to it that you can facilitate reproductive health decisions based on your results.

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How can I schedule a genetic consultation?

Our team of trained and board certified genetic counselors are on hand to make certain genetic screening is as understandable as possible.  Genetic consultation services are available at no additional cost for both healthcare providers and patients.  Please contact us at specialists@EvolveGene.com or Chat at EvolveGene.com to schedule a genetic consultation.

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Does Evolve offer genetic consultations in different languages?

Yes, at Evolve our complimentary genetic counseling is accessible to everyone by working with certified interpreters if a language other than English is spoken.

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Can you tell me more about international orders and consults?

To find out if Evolve Genetic Screens are available in your country, please contact us at support@EvolveGene.com or Chat at EvolveGene.com.

If an interpreter is required for a consultation, please indicate the requested language along with the your international phone number (including country code) when scheduling a genetic consultation.

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