Genetic screening with Invitae

Learn valuable information about your baby’s future health, even before you conceive.

Carrier screening

  • Determine your risk of passing a genetic condition on to your child, even if you do not have symptoms of the condition yourself

  • Carrier screening can be done before or during pregnancy

Non-invasive prenatal screening (NIPS)

  • In early pregnancy, understand your baby's risk of having certain genetic disorders like Down syndrome

Carrier screening

 

What is carrier screening?

Carrier screening checks to see if you and your partner are "carriers" of DNA changes that could cause your future child to inherit a genetic condition. Most of us carry hidden DNA changes that don’t affect our own health. But if you and your partner are both carriers of the same condition, your future child could be at risk. Carrier screening can let you know this  risk even before you get pregnant.

Why do I need carrier screening?

 

The Israeli Society of Medical Genetics and the State of Israel Ministry of Health recommend genetic carrier screening for all the population in order to identify couples who are at risk of having children with a severe genetic disease.1,2

Download our carrier screening guide to learn more, including a step-by-step instructions you can bring to your clinician to talk about ordering carrier screening.

Why should I choose Invitae carrier screening?

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Testing experts trust

lnvitae is trusted by over 1 million patients and their clinicians around the world. Our industry-leading labs are staffed by some of the world's leading genetic experts.

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Comprehensive screening

Screen for up to 302 genes, including cystic fibrosis, SMA, and fragile X (click here for a full list of genes and conditions).

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Accurate and reliable

Full gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS) provide accurate results regardless of your ethnicity.  

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Easy and quick results

Results are usually available in 10-21 calendar days. Carrier screening can be done at any time before, during, or even after pregnancy.

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Safe and convenient

Carrier screening can be performed on a blood or saliva sample. 

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Accessible

lnvitae offers $250 USD patient-pay pricing for carrier screening and $100 USD for your partner if they need screening too. (Please note that there is an additional cost associated with seeing your clinician or having your blood drawn.)

Non-invasive prenatal screening (NIPS)

 
What is NIPS?

Once you're pregnant, non-invasive prenatal screening (NIPS), also known as non-invasive prenatal testing, looks for a handful of chromosomal conditions, including Down syndrome, in free­ floating baby DNA found in mom's blood. The conditions detected by NIPS are not inherited; instead, they're caused by abnormal changes to the baby's chromosomes (the structure that contains your baby's individual genes). NIPS can also tell you your baby's sex sooner than ultrasound as early as 10 weeks.

 
Why do I need to have NIPS?

Israeli medical and governmental groups recognize the importance of screening for Down syndrome and other chromosomal conditions during pregnancy and especially recommend screening for women at high risk.3,4 NIPS is the most accurate screen for these conditions, regardless of risk level.5

 
NIPS is available to anyone who wants this information, whether you are pregnant with one baby or with twins. It's also often recommended if:

  • you are 35 years or older
  • an ultrasound of the baby has identified signs of a chromosomal condition
  • you or someone in your family has a chromosomal condition

Download our guide to learn more, including a step-by-step guide you can bring to your clinician to talk about ordering NIPS.

Which disorders does the Invitae NIPS screen for?

Trisomies screened Microdeletions screened* Sex chromosome disorders screened*
Down syndrome
Trisomy 21
1p36 deletion syndrome Turner syndrome
Monosomy X
Edwards syndrome
Trisomy 18
DiGeorge syndrome
22q11.2 deletion syndrome
Triple X syndrome
47,XXX
Patau syndrome
Trisomy 13
Angelman syndrome/ Prader-Willi syndrome
15q11.2 deletion syndrome
Klinefelter syndrome
47,XXY
Cri-du-chat syndrome
5p15.2 deletion syndrome
Jacob's syndrome
47,XYY
Wolf-Hirschhorn syndrome
4p16.3 deletion syndrome

*Not available for twin pregnancies

Why should I choose Invitae NIPS?

None

Testing experts trust

lnvitae is trusted by over 1 million patients and their clinicians around the world. Our industry-leading labs are equipped with best-in-class technology and staffed by some of the world's leading genetic experts.

None

Comprehensive screening

Invitae has developed a whole-genome sequencing (WGS) method to accurately screen maternal blood for fetal chromosomal abnormalities. WGS-based NI PS performs better than other NIPS methods that rely on single nucleotide polymorphisms 
(SNPs).6,7

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Accurate and reliable

lnvitae's NIPS approach shows >99% accuracy for common aneuploidies, microdeletions, and fetal sex prediction, so you can get the answers you need quickly and reliably.

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Early and quick results

Screening can be done as early as 10 weeks. Receive your test results typically in 5-7 calendar days from the time the lab receives your sample.

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Safe

NIPS involves a simple non-invasive blood test and does not pose a risk of miscarriage, as invasive methods do.8

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Accessible

$99 USD patient-pay price with optional microdeletion and sex chromosome analysis at no additional cost (Please note that there is an additional cost associated with seeing your clinician or having your blood drawn.)

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How can I get started with Invitae?

 
1. Visit your clinician
Talk to your clinician about your testing options with lnvitae. When you are ready, your clinician can visit www.invitae.com/en/physician/reproductive-health/ to order your test.

 
2. Provide a sample
Your clinician will collect a blood or saliva sample from you and ship it to our laboratory for analysis.

 
3. Make your plan
Discuss your results with your clinician.

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From planning to pregnant to parent—genetic information can help along the way.

 More than 20 medical geneticists and 75 genetic counselors can support you and your clinician in understanding genetic testing. 

Questions? Our Israeli team is available to help with questions in Hebrew or English.

References

  1. Israeli Society of Medical Genetics Survey tests in the population to detect couples at risk of having children with severe hereditary diseases. Reference: 274741016. October 19, 2016. Accessed March 24, 2021.
  2. State of Israel Ministry of Health. Recommendations for genetic testing. Published April 22, 2020. Accessed March 24, 2021.
  3. Michaelson-Cohen R et al. Israeli Society of Medical Genetics NIPT Committee Opinion 072013: Non-invasive prenatal testing of cell-free DNA in maternal plasma for detection of fetal aneuploidy. Fetal Diagn Ther. 2014;36(3):242-244.
  4. State of Israel Ministry of Health. Screening tests for the detection of Down syndrome. Published April 22, 2020. Accessed 7 July 2020.
  5. Gregg, A et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18:1056–1065.
  6. Artieri CG, et al. Noninvasive prenatal screening at low fetal fraction: comparing whole-genome sequencing and single-nucleotide polymorphism methods. Prenat. Diagn. 2017;37(5):482–90.
  7. Hancock S, et al. Clinical experience across the fetal-fraction spectrum for a non-invasive prenatal screen with low test-failure rate. Ultrasound Obstet Gynecol. Published online October 31, 2019.
  8. Committee on Practice Bulletins—Obstetrics, Committee on Genetics, and the Society for Maternal-Fetal Medicine. Practice bulletin no.163: screening for fetal aneuploidy. Obstet Gynecol. 2016;127(5):e123–37.