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Genetic Carrier Screening

Informed Family Planning with Carrier Screening

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What is Carrier Screening?

Carrier screening is a genetic test that aims to uncover any genetic defects (also known as variants) that an individual or couple could carry and unknowingly pass down to their children. 

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Autosomal Recessive Genetic Conditions

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If two carriers of the same autosomal recessive disorder have a child, there is a 25% chance that their child will inherit the disorder, and a 50% chance the child will be a carrier.

X-linked Recessive Genetic Conditions

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If a woman is a carrier and her reproductive partner is unaffected, 50% of their sons will inherit the condition, while 50% of daughters will be carriers.

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Early Screening Is Key

Carrier screening provides the genetic information needed to make more informed reproductive decisions. Screening prior to conception or early in pregnancy can offer many advantages:

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A negative result gives reassurance that your child will not be at significant risk of inheriting the genetic disorders screened for.

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A positive result Provides reliable condition-specific information including reproductive risks.

  • Allows time to access pre-conception reproductive options, such as in vitro fertilization (IVF) with preimplantation genetic testing (PGT), sperm or egg donation, or adoption.
  • Gives the opportunity for early prenatal diagnostic options such as chorionic villus sampling (CVS).

Carrier Screening Panels at PsiGenex

Comprehensive Carrier Screening Panel

Screens for 431 pertinent genetic disorders that cause a wide range of medical and intellectual symptoms. Panel covers common mutations as well as those that are more rare, making it the screening option that gives you the greatest chance of detecting harmful variants.

Ashkenazi Jewish Carrier Screening Panel

Screens for 61 genetic disorders that are most prevalent in people of Ashkenazi Jewish descent

ACOG/ACMG Carrier Screening Panel

Screens for 15 common genetic disorders that are recommended to women by the American College of Medical Genetics and Genomics (ACOG) and the American Congress of Obstetricians and Gynecologists (ACMG).

Core Carrier Screening Panel

Screens for 3 common genetic disorders:

  • Cystic Fibrosis - the most common autosomal recessive disorder.
  • Spinal Muscular Atrophy - second most common, lethal, autosomal recessive disorder.
  • Fragile X - X-linked disorder, leading cause of intellectual disabilities.

The PsiGenex Advantage

PsiGenex is a premier laboratory that brings together industry leading expertise with state-of-the-art technologies to provide unparalleled precision testing to our clinicians and their patients.

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Actionable Reporting

With vast coverage of medically relevant genes and high sensitivity achieved through Next Generation Sequencing, our tests provide reports that allow patients to take action for their health.

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Industry Leading Turnaround Time

Results this important can’t wait. We are committed to providing most test results in under a week.

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Compassionate Billing

Our billing team works with every patient to ensure they have access to premium comprehensive genetic testing, regardless of insurance coverage.

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Accessible Medical Team

In an effort to help navigate the complexities of genetic testing, we provide complimentary genetic counseling services and are here to answer any questions about our testing process.