Preparent Standard Panel

Test for carrier status of 29 hereditary disorders with ACOG/ACMG guidelines.

Why carrier testing?

If you’re an expectant parent, or thinking about starting a family, you probably want to do everything you can to prepare. The Preparent™ Carrier Screen provides a closer look at your genes, to see if you are at risk of passing a hereditary genetic disorder to your child. Knowing your genetic carrier status is one of the most important things you can do to prepare for parenthood.

 

What is included in the test?

The Preparent Standard Panel screens for 29 disorders that cause serious health effects in infancy or childhood.

View the complete list of disorders covered by the Standard Panel.

How are genetic disorders inherited?

Who is at risk?

We all carry genetic changes that don’t impact our own health, but can cause disease in our children. The only way to find out if you are a carrier is to have genetic carrier testing. Most people who learn they are carriers are healthy and have no known history of the condition in their family.

Carrier testing helps you prepare for life

Sometimes, a couple will learn during pregnancy that they are at increased risk for a hereditary disorder. When this happens, prenatal diagnostic tests can provide answers about whether the baby is affected by the disorder. Knowing about the health of the baby can help guide the medical management of the pregnancy, and could also give the family critical time to prepare—physically, financially, and emotionally—for the birth of a child with extra needs.

Couples who learn about their carrier status before conception can take steps to build a healthy family. There are a number of potential choices to consider. Some couples become pregnant naturally, with or without prenatal diagnosis. Some pursue in vitro fertilization (IVF), using a diagnostic test to help select healthy embryos for implantation. Others use donor eggs or sperm from a person who is not a carrier. Some couples choose to adopt a child. Your healthcare provider or a genetic counselor can discuss these options in greater detail.

Getting tested is simple

Visit your healthcare provider

Talk to your healthcare provider about whether this test is right for you.

Collect your sample

Your healthcare provider will coordinate collecting your sample and will send it to the Progenity laboratory.

Receive your results

Your test results will be completed in about 2 weeks; you’ll be notified when they are ready.

Review your next steps

Get complimentary access to Progenity Genetic Counselors to help you and your healthcare provider plan your next steps.

Frequently asked questions

Most hereditary genetic disorders are autosomal recessive, which means that both parents must be a carrier for the child to be at risk. If you are a carrier of an autosomal recessive disorder, it is important to find out if your partner is also a carrier of the same disorder. There are some disorders where only mom needs to be a carrier for the child to be at risk. These are called X-linked disorders.

Carrier testing determines with a high degree of accuracy whether you carry a changed gene that could cause a disease. A negative result indicates you are not a carrier of the gene changes you were tested for. However, no test is perfect. There is still a small chance that you could be a carrier even if your result is negative.

A routine lab test analyzes your DNA, and can determine whether you are a carrier.

All testing is optional. The decision to accept or decline carrier testing is completely up to you.

Results take about two weeks from the date your blood sample is drawn.

Carefully designed to meet ACOG/ACMG guidelines

The Standard Panel has been carefully designed to meet all current guidelines from ACOG and ACMG.2–5 This enables a simple carrier testing protocol that is compliant with professional society guidelines, without relying on the accuracy of patient-reported risk factors such as family history and ethnic background.3 The Standard Panel includes all disorders with screening guidelines issued by ACOG or ACMG.

Disorder
Average Carrier Frequency
Meets ACOG/ACMG Guidelines
Cystic fibrosis
(600 mutations)
1 in 30
Spinal muscular atrophy
1 in 50
Fragile X syndrome
1 in 259
Hemoglobinopathies
1 in 70
Ashkenazi Jewish disorders
1 in 20

Fast facts: Standard Panel

Test Includes
Positivity Rate
Specimen Type
Turnaround Time
29 autosomal and X-linked disorders
13% positivity rate1
Whole blood, buccal swab, or mouthwash specimens accepted†
Results in 10 – 14 days

† Receipt of a blood specimen is required to perform hemoglobin evaluation and Hexosaminidase A enzyme analysis for Tay-Sachs disease. DNA analysis for hemoglobinopathies and Tay-Sachs disease will be performed on all specimen types. DNA analysis for hemoglobinopathies is not performed in New York State.

‡ For fragile x testing, reflexive Xpansion Interpreter® testing is provided for female carriers of 55 – 90 CGG repeats.

REFERENCES

  1. Progenity, Inc. Data on file.
  2. Carrier screening for genetic conditions. Committee Opinion No. 691. American College of Obstetricians and Gynecologists. Obstet Gynecol 2017;129:e41–55.
  3. Carrier screening in the age of genomic medicine. Committee Opinion No. 690. American College of Obstetricians and Gynecologists. Obste Gynecol 2017:129:e35–40.
  4. Carrier screening for spinal muscular atrophy. ACMG Practice Guidelines. American College of Medical Genetics and Genomics. Genet Med. 2008 10:11:840–2.
  5. Carrier screening in individuals of Ashkenazi Jewish descent. ACMG Practice Guidelines. American College of Medical Genetics and Genomics. Genet Med. 2008 Jan;10:54–6.

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