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Conditions and genes included

The variants we detect

Genetic Insights uses next-generation sequencing (NGS) technology to identify pathogenic or likely pathogenic variants in the genes associated with the conditions listed below. DNA variants in these genes that are associated with an unrelated condition are not reported.

 

The “variants detected” rate is an estimate of the proportion of total pathogenic and likely pathogenic variants in the genes associated with the conditions included that are detected by the Genetic Insights test.* The variant detected rate is never 100% since this test is not intended to detect all types of DNA variants in the genes included.

 

If a pathogenic or likely pathogenic DNA variant is identified, patients can work with a healthcare provider to determine the best ways to be proactive about their health risks.

 

*Data on file, 2023.

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Cancer risk

Gene included: CHEK2

Variants detected: >80% 

People with certain DNA variants in the CHEK2 gene have a higher chance of developing certain cancers, especially colon cancer, breast (especially in women but men may have an increased risk too), and prostate cancer (in men). 

 

Gene included: STK11

Variants detected: >70% 

Peutz-Jegers syndrome (PJS) is a genetic condition that increases the chance of developing colon cancer, breast cancer (in women), and other types of cancer, such as cancer of the pancreas, stomach, and small bowel. Most people with PJS have a DNA variant identified in the STK11 gene. 

Gene included: ATM

Variants detected: >90% 

People with certain DNA variants in their ATM gene have a higher chance of developing certain cancers, especially breast cancer in women and pancreatic cancer in men and women. 

 

Genes included: BRCA1, BRCA2

Variants detected: >80% 

People with hereditary breast and ovarian cancer syndrome (HBOC) have a DNA variant in the BRCA1 or BRCA2 genes that increase the chances of developing breast cancer and ovarian cancer (in women) or breast cancer and prostate cancer (in men), often at an earlier age. 

 

Gene included: PALB2

Variants detected: >80% 

Both men and women with certain DNA variants in their PALB2 gene have a higher chance of developing breast cancer and certain other cancers including pancreatic cancer. 

Gene included: APC

Variants detected: >80% 

Certain DNA variants in the APC gene are linked to the inherited conditions familial adenomatous polyposis (FAP) and attenuated FAP (AFAP). People with FAP have hundreds to thousands of colon polyps and nearly 100% chance of developing colon cancer in their lifetime. People with AFAP develop fewer polyps than people with FAP and have up to a 70% chance of developing colon cancer in their lifetime. 

 

Gene included: BMPR1A 

Variants detected: >70%

Juvenile polyposis syndrome (JPS) is due to DNA variants in the BMPR1A or SMAD4 genes. People with JPS can have a significantly higher chance of developing colon cancer in their lifetime. The SMAD4 gene is also included in this test. See below for more information about that gene. 

 

Gene included: SMAD4

Variants detected: >70% 

Juvenile polyposis syndrome (JPS) is due to a DNA variant in the BMPR1A or SMAD4 gene. People with JPS can have a significantly higher chance of developing colon cancer in their lifetime. Many people with a DNA variant in SMAD4 also have a condition called hereditary hemorrhagic telangiectasia (HHT). HHT causes problems with the blood vessels, which can lead to health issues such as excessive nosebleeds or other abnormal bleeding events. The BMPR1A gene is also included in this test. See above for more information about that gene. 

 

Genes included: MLH1, MSH2, MSH6, PMS2

Variants detected: >70% 

Lynch syndrome is due to DNA variants in the MLH1, MSH2, MSH6, or PMS2 genes. People with Lynch syndrome have an increased chance of developing colon, uterine, and several other cancers, often at an earlier age. A small number of Lynch syndrome cases are due to DNA variants in the EPCAM gene which is not included in this test. 

 

Gene included: MUTYH 

Variants detected: >90% 

MAP is a genetic condition that significantly increases the chance of developing colon cancer and certain other cancers such as duodenal cancer. It is due to DNA variants in the MUTYH gene. People can either be a carrier of MAP or have MAP. Carriers have a slightly increased chance of developing colon cancer. 

 

Gene included: POLD1 

Variants detected: >90% 

Certain DNA variants in the POLD1 gene are linked to a higher chance of developing colon and possibly other cancers. 

 

Gene included: POLE

Variants detected: >90% 

Certain DNA variants in the POLE gene are linked to a higher chance of developing colon and possibly other cancers. 

Carrier status

Gene included: CFTR

Variants detected: >90% 

Cystic fibrosis (CF) is an inherited condition that leads to a buildup of thick, sticky mucus that damages the lungs, pancreas, and other organs. This causes difficulty breathing and other potentially serious problems. CF carriers do not have CF but their children might if the other biological parent is also a carrier. If both biological parents (or an individual and their egg/sperm donor) are carriers of CF, then each of their children has a 1 in 4 chance of developing CF.

Note: This test excludes detection of the presence or absence of the R117H variant and does not genotype the intron 8 poly-T tract. Variants in the CFTR gene associated only with congenital bilateral absence of the vas deferens (CBAVD) are not reported.  

Gene included: HBB

Variants detected: >99%  

Sickle cell anemia carriers do not have sickle cell anemia but their children might. Sickle cell anemia is an inherited disease that affects the red blood cells, which carry oxygen throughout the body. The disease causes red blood cells to change shape, making them no longer work well. This can lead to severe pain, vision problems, organ damage, stroke, and a shorter lifespan. If both biological parents (or an individual and their egg/sperm donor) are carriers of sickle cell anemia, then each of their children has a 1 in 4 chance of developing the condition. 

Note: this test detects the single variant that is linked to sickle cell anemia: NM_00051.5(HBB):c.20A>T (p.Glu7Val). 

Gene included: HEXA

Variants detected: >90% 

Tay-Sachs disease (TSD) is an inherited condition that leads to the deterioration of cells in the brain and spinal cord, typically leading to muscle weakness and death in early childhood. TSD carriers do not have TSD but their children might if the other biological parent is also a carrier. If both biological parents (or an individual and their egg/sperm donor) are carriers of TSD, then each of their children has a 1 in 4 chance of developing the disease.

Note: This assay excludes detection of the presence or absence of the pseudodeficiency alleles in HEXA.

Connective tissue disorders

Genes included: COL5A1, COL5A2

Variants detected: >90% 

Classical EDS typically causes issues with the skin and joints. This leads to skin that is softer and more stretchy than normal, wounds that take longer to heal, scars that are more visible than typical, and a higher chance of joint pain and dislocation. Serious problems with the heart or blood vessels can happen but are thought to be less common in people with classical EDS than in people with some other connective tissue disorders.  

Gene included: ACTA2

Variants detected: >90% 

FTAAD primarily affects the connective tissues in the thoracic aorta. The thoracic aorta is the upper part of the blood vessel that carries blood from the heart to the rest of the body. It can lead to a higher chance of an aneurysm and/or dissection of the aorta. Somewhere between 12-20% of FTAAD cases are explained by known ACTA2 variants. 

Genes included: TGFBR1, TGFBR2, TGFB2, TGFB3

Variants detected: >90% 

LDS affects the connective tissues in the blood vessels, bones, and skin. This can lead to a higher chance of an aneurysm and/or dissection in the aorta and other major arteries. LDS can also lead to asthma, eye problems, scoliosis, a cleft palate, and other issues. More than 80% of LDS cases are explained by known variants in the four genes this test analyzes. 

Gene included: FBN1

Variants detected: >80% 

Marfan syndrome can cause issues with the heart, blood vessels, eyes, bones, and lungs. Most people with Marfan syndrome will develop an aneurysm and/or dissection at some point in their lives. They may also develop eye problems, heart problems, scoliosis, or a sunken or protruding chest. 

Gene included: COL3A1

Variants detected: >90% 

Vascular EDS affects the connective tissues in the blood vessels and organs by making the walls of these body parts more fragile than typical. People with vascular EDS have a high chance of developing an aneurysm, dissection, or rupture. These problems can happen anywhere along the aorta as well as in major blood vessels in the head, neck, arms, and legs. Vascular EDS can also lead to ruptures in organs, including the uterus in pregnant women. 

Heart and blood health

Genes included: MYBPC3, MYH7

Variants detected: >80%

Cardiomyopathy is a disease of the heart muscles that can lead to problems ranging from an irregular heartbeat to heart failure. Certain DNA variants in the MYBPC3 or MYH7 genes are associated with an increased risk of developing cardiomyopathy. DNA variants in other genes not included in this test are also associated with cardiomyopathy.  

Genes included: APOB, LDLR, PCSK9

Variants detected: >85%

People with familial hypercholesterolemia (FH) have a higher than typical chance of developing very high levels of LDL cholesterol, which can increase the chance of cardiovascular disease, including heart attack. In rare cases, FH is caused by DNA variants in the gene LDLRAP1 which is not included in this test. About 40% of people with a clinical diagnosis of FH do not have a DNA variant identified on genetic testing. 

Gene included: HFE

Variants detected: >90%

Hereditary hemochromatosis can lead to having too much iron in the blood. People with hereditary hemochromatosis can sometimes develop iron overload disorder, which happens when too much iron builds up in the body. Left untreated, elevated iron levels can lead to permanent organ damage. 

Note: this test detects the following two variants that account for >90% of the cases of type 1 hereditary hemochromatosis: 

NM_000410.3(HFE):c.187C>G (p.His63Asp)

NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)

Genes included: F2, F5

Variants detected: >90%

Hereditary thrombophilia can increase the chances of developing potentially dangerous blood clots. People with hereditary thrombophilia have a higher chance of developing blood clots inside veins when they shouldn’t. This can lead to health problems and, in some cases, be life-threatening. 

Note: this test detects the following two variants that account for the majority of the cases of hereditary thrombophilia. 

NM_000506.4(F2):c.*97G>A

NM_000130.4(F5):c.1601G>A (p.Arg534Gln) 

The Genetic Insights test was developed and is performed by Quest Diagnostics. The test results are not diagnostic and do not determine the overall chance of developing a disease or health condition. The tests are not cleared or approved by the US Food and Drug Administration. Individuals should consult a healthcare provider before taking any action based on test results, including before making any treatment, dietary, or lifestyle changes. 

Our Quest Diagnostics Genetics Center can help

You can get answers, assistance, and advice from board-certified genetic counselors, medical geneticists, and medical directors. Call 1.866.GENE.INFO (1.866.436.3463).

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Conditions and genes included