Genetic carrier screening
Maximize clinical insights and minimize uncertainty around the potential impact of inherited genetic disorders.
Genetic carrier screening offers critical insight for your patients who may be considering conception or early in pregnancy
Genetic carrier screening can provide a better understanding of the likelihood and potential impact of inherited genetic disorders. ACOG recommends that all individuals, regardless of race or ethnicity, be offered screening for the same set of conditions.1 At Quest, we recognize that your patients have questions, and we can provide you with the answers.
QHerit® carrier screening
Broad portfolio of clinically relevant, right-sized solutions for patients
Advances in next-generation sequencing (NGS) have led to expanded carrier screening, making it easier to screen for a greater number of conditions as patients navigate their family planning journey. Our innovative QHerit® product portfolio provides several clinically relevant, right-sized panels designed with the American College of Obstetricians and Gynecologists (ACOG) guidelines, and the American College of Medical Genetics and Genomics (ACMG) practice resource in mind.
Learn more about our pan-ethnic carrier screening panels that can provide medically appropriate insights you and your patients need to plan their futures.
Spinal muscular atrophy with silent carrier screening
Spinal muscular atrophy (SMA) is a progressive, neuromuscular genetic disease that affects motor nerve
cells in the spinal cord and is a leading cause of infant mortality.2 SMA screening from Quest
provides increased detection and greater insights on carrier status.
- Early screening is recommended by leading medical organizations
- 1 in 50 people in the US are carriers3
- Even if a couple already has healthy children and no family history of SMA, 1 or both parents may still be a carrier
- Carriers generally do not show signs and symptoms of SMA, but could be at risk to have a child affected with the condition
CFvantage® Cystic Fibrosis Expanded Screen
Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system,
and other organs in the body. The CFvantage® Cystic Fibrosis Expanded Screen from Quest
analyzes an expanded number of variants that have been proven to cause cystic fibrosis. This panel
includes the 23 variants recommended by leading health organizations for screening of all women of
childbearing age.
- Guidelines recommend that patients with a personal or family history of CF be offered screening
- If your patient tests positive for 1 CF mutation, guidelines recommend performing a CF screen on the male partner4
- If he is also a CF carrier, the fetus has a 25% risk of being affected with CF. Guidelines recommend offering the couple genetic counseling and prenatal testing if both partners are CF carriers
- If your patient’s male partner’s result is negative, his residual risk to be a CF carrier is reduced, and the risk that the fetus is affected with CF is also reduced. The percent risk reduction is based on ethnicity, because the CF screen sensitivity varies by ethnic group
For patients suspected of having CF, additional genetic testing may be considered to determine whether a second rare mutation, not detected by the standard CF screen, is present.
Genetic counselors are available to help with test selection and results interpretation.
Call 1.866.GENE.INFO (1.866.436.3463)
Carrier screening tests
Click the name of the carrier screen to learn more.
CORRESPONDING QUEST TEST
QHerit® carrier screening
5 testing options—up to 445 diseases —empower you to select the medically
appropriate panel
View available QHerit panels
TEST CODE
CORRESPONDING QUEST TEST
Prenatal Carrier Panel (CFvantage, Fragile X, SMA)a
TEST CODE
93349
CORRESPONDING QUEST TEST
CFvantage® Cystic Fibrosis Expanded Screen
161 CF variants, including the 23 common variants recommended by ACOG/ACMG
TEST CODE
92068
CORRESPONDING QUEST TEST
XSense®, Fragile X with Reflex
TEST CODE
16313
CORRESPONDING QUEST TEST
SMA Carrier Screen
TEST CODE
18041
a Panel components for males do not include specified X-linked diseases.
Test codes may vary by location. Please contact your local laboratory for more information.
References:
- The American College of Obstetricians and Gynecologists (ACOG). ACOG committee opinion no. 690: carrier screening in the age of genomic medicine. Obstet Gynecol. 2017;129(3):e35-e40. doi:10.1097/AOG.0000000000001951
- ObG Project. Spinal muscular atrophy: genetic concepts and carrier screening. Accessed April 30, 2020. https://www.obgproject.com/2017/04/18/spinal-muscular-atrophy-genetic-concepts-carrier-screening/
- SMA Foundation. About SMA: frequently asked questions. Accessed May 12, 2020. https://smafoundation.org/about-sma/faq/
- ACOG. ACOG committee opinion no. 486: update on carrier screening for cystic fibrosis. Obstet Gynecol. 2011;117(4):1028-1031. doi:10.1097/AOG.0b013e31821922c2
Genetic consultation available
CertifiedBoard-certified Genomic Science Specialists are available to help with test selection and results interpretation 1.866.GENE.INFO (1.866.436.3463)
