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
3 clinically-relevant panels that provide actionable results
Advances in next-generation sequencing (NGS) have led to expanded carrier screening, making it easier to screen for a greater number of disorders. QHerit is a medically responsible portfolio of clinically relevant tests that screen only for diseases recommended in guidelines established by professional organizations (ACOG, ACMG, NSGC, Jewish advocacy groups) for carrier testing.
Learn more about our pan-ethnic carrier screening panels that can provide you with the level of testing that is medically appropriate for each patient.
Spinal Muscular Atrophy
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 Quest Diagnostics is a pioneer in SMA screening, bringing the first commercial test to market and continuing to innovate to help minimize the uncertainty that arises from identifying carriers of extremely rare disorders or variants of unknown significance.
- Early screening is recommended by many of the world’s leading medical organizations
- 1 in 50 people in the US are carriers3
- Even if a couple already has a healthy child or children and no family history of SMA, 1 or both may still be a carrier of the disease
- 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® Expanded Carrier Screen
22-disease panela:
Alpha Thalassemia, Beta-Hemoglobinopathies (Including Sickle Cell Disease), Bloom Syndrome, Canavan Disease, Cystic Fibrosis (CFvantage), Dihydrolipoamide Dehydrogenase Deficiency, Familial Dysautonomia, Familial Hyperinsulinism, Fanconi Anemia Type C, Fragile X Syndrome, Gaucher Disease, Glycogen Storage Disease Type IA, Joubert Syndrome 2, Maple Syrup Urine Disease, Mucolipidosis Type IV, Nemaline Myopathy, Niemann-Pick Disease Type A, Spinal Muscular Atrophy, Tay-Sachs Disease, Usher Syndrome Type IF, Usher Syndrome Type IIIA, and Walker-Warburg Syndrome
TEST CODE
94372
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 Father is tested only for the disorders that the mother is positive for.
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
Certified genetic counselors are available to help with test selection and results interpretation 1.866.GENE.INFO (1.866.436.3463).
