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.

Genetic carrier screeningGenetic carrier screening

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.

QHerit starts with a simple maternal blood draw performed as early as 10 weeks into the pregnancy
The No Surprise $300 patient assistance program helps determine prior authorization requirements and patient coverage

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. Test code 18041

  • 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. Test code 92068

  • 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.

Carrier screening tests

Click the name of the carrier screen to learn more.

Laboratory Screening
Corresponding Quest Test
TEST CODE
Pan-ethnic expanded carrier screen

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

Prenatal carrier

CORRESPONDING QUEST TEST

Prenatal Carrier Panel (CFvantage, Fragile X, SMA)a

TEST CODE

93349

Cystic fibrosis

CORRESPONDING QUEST TEST

CFvantage® Cystic Fibrosis Expanded Screen
161 CF variants, including the 23 common variants recommended by ACOG/ACMG

TEST CODE

92068

Fragile X

CORRESPONDING QUEST TEST

XSense®, Fragile X with Reflex

TEST CODE

16313

Spinal muscular atrophy

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:

  1. 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
  2. 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/
  3. SMA Foundation. About SMA: frequently asked questions. Accessed May 12, 2020. https://smafoundation.org/about-sma/faq/
  4. 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