QHerit® carrier screening
When your patients are looking to understand if they are a carrier for specific genetic conditions like cystic fibrosis, spinal muscular atrophy, fragile X syndrome, or Tay-Sachs disease, appropriate genetic screening and actionable results are essential.
QHerit® carrier screening
Broad portfolio of clinically relevant, right-sized solutions for patients
As patients consider starting a family, they may want to have a better understanding of their genetic makeup, and whether they are at increased risk of passing along a genetic variant to their children. Genetic carrier screening is a crucial tool to help couples have a better understanding of risk and guide their family planning decisions.
Relevant results. Confident care.*
Designed with the guidelines from the American College of Obstetricians and Gynecologists (ACOG) in mind, Quest’s experiencedboard-certified genetic counselors and scientists developed pan-ethnic QHerit® carrier screening to provide you and your patients with important insights into relevant conditions that can impact healthcare planning decisions.
Alpha-thalassemia, Beta-hemoglobinopathies (including sickle cell disease), Bloom syndrome, Canavan disease, Cystic fibrosis, Dihydrolipoamide dehydrogenase deficiency, Familial dysautonomia, Familial hyperinsulinism, ABCC8-related, Fanconi anemia, type C, Fragile X syndromed, Gaucher disease, Glycogen storage disease, type 1A, Joubert syndrome 2, Maple syrup urine disease, 1B, Mucolipidosis, type 4, Nemaline myopathy, Niemann-Pick disease, types A & B, Spinal muscular atrophy, Tay-Sachs disease, Usher syndrome, type 1F, Usher syndrome, type 3A, Walker-Warburg syndrome
Please note that Quest offers a variety of single gene and gene panel testing. For the genetic panel noted in this document, there may be single gene tests or smaller panels that may be applicable for your patient. Refer to the Quest Diagnostics Test Directory for further information.
Relevant results, confident care.*
As part of our commitment to provide clinically relevant, right-sized solutions, our QHerit® product portfolio has been designed to help you understand your patient’s genetic risks and support family planning discussions.
Ever-evolving, our QHerit panels are 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. We currently offer 4 screening panel options for up to 421 diseases to help you to select a medically appropriate panel based on your patient’s needs.
Pan-ethnic carrier screening with QHerit
Pan-ethnic carrier screening with QHerit
22 diseases
24 genes
84 diseasesc
85 genes
150 diseasesc
150 genes
421 diseasesc
421 genes
The most common diseases, including cystic fibrosis (CF), spinal muscular atrophy (SMA), fragile X, and Tay-Sachs
22 diseases
24 genes
84 diseasesc
85 genes
150 diseasesc
150 genes
421 diseasesc
421 genes
a Based on Quest Diagnostics 2021 fiscal year national claims analysis.
b QHerit panels are screening tests. QHerit does not diagnose a disease or disorder.
c Panel components for males do not include specified X-linked diseases.
Please note that Quest offers a variety of single-gene and gene panel testing. For the genetic panel noted in this document, there may be single-gene tests or smaller panels that may be applicable for your patient. Refer to the Quest Diagnostics Test Directory for further information.
Responsible genomics for insights that empower action*
Empowering you and your patients to optimize family planning decisions
We understand that you and your patients depend on these results for prenatal planning and care. The QHerit carrier screening portfolio provides medically appropriate and accessible information that you and your patients need to optimize prenatal care decisions.
At Quest Advanced® Women’s Health, we understand that you and your patients depend on these results for family planning and care. QHerit provides medically appropriate and clinically relevant insights that you and your patients need to help plan their futures.
Genetic testing that’s accessible and affordable
We believe cost shouldn’t be a barrier to care. We are committed to keeping costs low so that more patients, regardless of their financial status, can access the screening they need.
- In-network for > 90% of lives nationwided and preferred lab network status with major health plans, including Aetna®, Horizon®, and UnitedHealthcare®
- QHerit No Surprise program helps determine prior authorization requirements and limits patients’ out-of-pocket responsibility to $300
- QHerit Supplemental Financial Assistance program is available for both insured and uninsured patients who qualify
a Based on Quest Diagnostics 2021 fiscal year national claims analysis.
d This is directional data. It is based on 2020 HealthLeaders membership data of private third-party payers at the Managed Care Organization (MCO) level, as well as Quest internal data. Information is believed to be accurate as of January 1, 2020; however, it is subject to change. Does not include Kaiser Permanente access data.
Choose Quest for the carrier screening you and your patients can count on*
Visit the Test Directory to review the QHerit carrier screening panel options for your patients
Genes and diseases included in QHerit®carrier screen panels
QHerit panel test code 94372
The below disease conditions are included in the QHerit panel. If there’s an interest in screening for a specific disorder, Quest also offers single-gene screening of these disease conditions.b,cPlease refer to the Gene test code column for ordering information.
DISEASE CONDITIONS
GENE
Gene test codeb,c
DISEASE CONDITION
Alpha-thalassemia
GENE
HBA1/HBA2
Gene test codeb,c
11175
DISEASE CONDITION
Beta-hemoglobinopathies (including sickle cell disease)
GENE
HBB
Gene test codeb,c
14974
DISEASE CONDITION
Bloom syndrome
GENE
BLM
Gene test codeb,c
90872
DISEASE CONDITION
Canavan disease
GENE
ASPA
Gene test codeb,c
90905
DISEASE CONDITION
Cystic fibrosis
GENE
CFTR
Gene test codeb,c
92068
DISEASE CONDITION
Dihydrolipoamide dehydrogenase deficiency
GENE
DLD
Gene test codeb,c
92046
DISEASE CONDITION
Familial dysautonomia
GENE
IKBKAP
Gene test codeb,c
90912
DISEASE CONDITION
Familial hyperinsulinism, ABCC8-related
GENE
ABCC8
Gene test codeb,c
92045
DISEASE CONDITION
Fanconi anemia, type C
GENE
FANCC
Gene test codeb,c
90897
DISEASE CONDITION
Fragile X syndromed
GENE
FMR1
Gene test codeb,c
16313
DISEASE CONDITION
Gaucher disease
GENE
GBA
Gene test codeb,c
90907
DISEASE CONDITION
Glycogen storage disease, type 1A
GENE
G6PC
Gene test codeb,c
90915
DISEASE CONDITION
Joubert syndrome 2
GENE
TMEM216
Gene test codeb,c
92050
DISEASE CONDITION
Maple syrup urine disease, 1B
GENE
BCKDHB
Gene test codeb,c
90909
DISEASE CONDITION
Mucolipidosis, type 4
GENE
MCOLN1
Gene test codeb,c
90899
DISEASE CONDITION
Nemaline myopathy
GENE
NEB
Gene test codeb,c
92055
DISEASE CONDITION
Niemann-Pick disease, types A & B
GENE
SMPD1
Gene test codeb,c
90893
DISEASE CONDITION
Spinal muscular atrophy
GENE
SMN
Gene test codeb,c
39445
DISEASE CONDITION
Tay-Sachs disease
GENE
HEXA
Gene test codeb,c
90903
DISEASE CONDITION
Usher syndrome, type 1F
GENE
PCDH15
Gene test codeb,c
92047
DISEASE CONDITION
Usher syndrome, type 3A
GENE
CLRN1
Gene test codeb,c
92048
DISEASE CONDITION
Walker-Warburg syndrome
GENE
FKTN
Gene test codeb,c
92051
c Panel components for males do not include specified X-linked diseases.
e Designated X-linked disease.
While we offer a comprehensive testing menu, some patients may have an interest in screening for a specific disorder, such as cystic fibrosis. For these patients, Quest Diagnostics offers single-gene screening. Consultation available on genetic test selection and results interpretation 1.866.GENE.INFO (1.866.436.3463).
Please note that Quest offers a variety of single-gene and gene panel testing. For the genetic panel noted in this document, there may be single-gene tests or smaller panels that may be applicable for your patient. Refer to the Quest Diagnostics Test Directory for further information.
*QHerit, QHerit Plus, QHerit Extended, QHerit 421 and QHerit 381 are carrier “screening” tests, and they screen for variations in genes linked to certain health disorders, which can be passed from parents to children. QHerit screens 24 genes; QHerit Plus screens 85 genes, QHerit Extended screens 150 genes, QHerit 421 screens 421 genes and QHerit 381 screens 381 genes. For a full list of genes that each panel in the QHerit family screens, visit the Quest Diagnostics Test Directory. If the results from any panel in the QHerit family suggest that a patient may be a carrier of a gene variation that can cause a health disorder in her offspring, it is recommended that her reproductive partner be offered genetic screening, and that genetic counseling be provided. Pregnancy management decisions should not be based on the results of these screening tests alone. As with any test, there may be false positives or false negatives. The positive predictive value of the screening test varies by genetic variation, and may be lower for rare conditions. Each panel in the QHerit family is a laboratory-developed test that has been developed and validated pursuant to the Clinical Laboratory Improvements Amendments of 1988 (CLIA) and, as such, it has not been reviewed by FDA.
Test codes may vary by location. Please contact your local laboratory for more information.
Image content features models and is intended for illustrative purposes only.
a Based on Quest Diagnostics 2021 fiscal year national claims analysis.
b While we offer comprehensive testing, some patients may have an interest in screening for a specific disorder, such as cystic fibrosis. For these patients, Quest Diagnostics offers single-gene screening. Consultation available on genetic test selection and results interpretation: 1.866.GENE.INFO (1.866.436.3463).
c Please note that Quest offers a variety of single gene and gene panel testing. For the genetic panel noted in this document, there may be single gene tests or smaller panels that may be applicable for your patient. Panel and Profile components may be ordered separately. Refer to the Quest Diagnostics Test Directory for further information: https://testdirectory.questdiagnostics.com/test/home.
d Designated X-linked diseases.
* QHerit is a carrier “screening” test, and it screens for variations in genes linked to certain health disorders, which can be passed from parents to children. For a full list of all 22 genes that QHerit screens, visit QHerit.com. If QHerit results suggest that a patient may be a carrier of a gene variation that can cause a health disorder in her offspring, it is recommended that her reproductive partner be offered genetic screening, and that genetic counseling be provided. Pregnancy management decisions should not be based on the results of QHerit alone. As with any test, there may be false positives or false negatives. The positive predictive value of the screening test varies by genetic variation, and may be lower for rare conditions. QHerit is a laboratory developed test that has been developed and validated, pursuant to the Clinical Laboratory Improvements Amendments of 1988 (CLIA), and as such it has not been reviewed by FDA.
Test codes may vary by location. Please contact your local laboratory for more information.
Image content features models and is intended for illustrative purposes only.
Genetic consultation available
CertifiedBoard-certified counselors are available to help with test selection and results interpretation 1.866.GENE.INFO (1.866.436.3463).
Patient info
For assistance with questions about the testing process or locations, call 1.866.MYQUEST (1.866.697.8378)
Call 1.866.MYQUEST
(1.866.697.8378)
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