Cancer Risk
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Hereditary breast and ovarian cancer (HBOC) syndrome can increase the chances of developing breast cancer and ovarian cancer. HBOC is caused by a DNA difference in the BRCA1 or BRCA2 gene and leads to a higher chance of developing certain cancers. The two most common cancers linked to HBOC are breast cancer and ovarian cancer.
Variants detected by NGS technology
- NGS can detect up to 80% of the known variants linked to HBOC (including the BRCA1 BRCA2 variants), one of the most common forms of inherited breast cancer.
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Hereditary breast and ovarian cancer (HBOC) syndrome can increase the chances of developing breast cancer and ovarian cancer. HBOC is caused by a DNA difference in the BRCA1 or BRCA2 gene and leads to a higher chance of developing certain cancers. The two most common cancers linked to HBOC are breast cancer and ovarian cancer.
Variants detected by microarray technology
BRCA1
- NM_007294.3(BRCA1):c.5277+1delG
- NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly)
- NM_007294.3(BRCA1):c.4964_4979delCTGGCCTGACCCCAGA (p.Ser1655Terfs)
- NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter)
- NM_007294.3(BRCA1):c.2035A>T (p.Lys679Ter)
- NM_007294.3(BRCA1):c.3331C>T (p.Gln1111Ter)
- NM_007294.3(BRCA1):c.2138C>G (p.Ser713Ter)
- NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe)
- NM_007294.3(BRCA1):c.1556delA (p.Lys519Argfs)
- NM_007294.3(BRCA1):c.2457delC (p.Asp821Ilefs)
- NM_007294.3(BRCA1):c.3331_3334delCAAG (p.Gln1111Asnfs)
- NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs)
- NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs)
- NM_007294.3(BRCA1):c.2681_2682delAA (p.Lys894Thrfs)
- NM_007294.3(BRCA1):c.5277+1G>A
- NM_007294.3(BRCA1):c.5277+1G>T
- NM_007294.3(BRCA1):c.4964_4982del19 (p.Ser1655Tyrfs)
- NM_007294.3(BRCA1):c.5503_5564del62 (p.Arg1835Thrfs)
BRCA2
- NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His)
- NM_000059.3(BRCA2):c.2830A>T (p.Lys944Ter)
- NM_000059.3(BRCA2):c.3265C>T (p.Gln1089Ter)
- NM_000059.3(BRCA2):c.5645C>A (p.Ser1882Ter)
- NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys)
- NM_000059.3(BRCA2):c.2330dupA (p.Asp777Glufs)
- NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs)
- NM_000059.3(BRCA2):c.3545_3546delTT (p.Phe1182Terfs)
- NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs)
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Lynch syndrome increases the chances of developing colon cancer and uterine cancer. People with Lynch syndrome have a higher chance of developing certain cancers. The two most common cancers linked to Lynch syndrome are colon cancer and uterine cancer.
Variants detected by NGS technology
- NGS can detect up to 80% of the known variants linked to Lynch syndrome, one of the most common forms of inherited colon cancer.
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Lynch syndrome increases the chances of developing colon cancer and uterine cancer. People with Lynch syndrome have a higher chance of developing certain cancers. The two most common cancers linked to Lynch syndrome are colon cancer and uterine cancer.
Variants detected by microarray technology
MLH1
- NM_000249.3(MLH1):c.1897-2A>G
MSH2
- NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter)
- NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro)
MSH6
- NM_000179.2(MSH6):c.1634_1637del (p.Lys545fs)
- NM_000179.2(MSH6):c.892C>T (p.Arg298Ter)
- NM_000179.2(MSH6):c.1637_1638delAG (p.Glu546Glyfs)
- NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp)
PMS2
- NM_000535.6(PMS2):c.903G>A (p.Lys301=)
- NM_000535.6(PMS2):c.903G>T (p.Lys301Asn)
- NM_000535.5(PMS2):c.861_864delACAG (p.Arg287Serfs)
- NM_000535.6(PMS2):c.1840A>T (p.Lys614Ter)
- NM_000535.6(PMS2):c.856delG (p.Asp286fs)
Carrier Status
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Cystic Fibrosis (CF) carriers do not have CF but their children might. 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. If both biological parents are carriers of CF, then each of their children has a 1 in 4 chance of developing CF. Knowing whether they are a carrier of CF is especially important for people who are planning on having children.
Variants detected by microarray technology
CFTR
- NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe)
- NM_000492.3(CFTR):c.1519_1521delATC (p.Ile507del)
- NM_000492.3(CFTR):c.1000C>T (p.Arg334Trp)
- NM_000492.3(CFTR):c.1657C>T (p.Arg553Ter)
- NM_000492.3(CFTR):c.3484C>T (p.Arg1162Ter)
- NM_000492.3(CFTR):c.3718-2477C>T
- NM_000492.3(CFTR):c.2988+1G>A
- NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp)
- NM_000492.3(CFTR):c.254G>A (p.Gly85Glu)
- NM_000492.3(CFTR):c.1585-1G>A
- NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter)
- NM_000492.3(CFTR):c.579+1G>T
- NM_000492.3(CFTR):c.1040G>C (p.Arg347Pro)
- NM_000492.3(CFTR):c.489+1G>T
- NM_000492.3(CFTR):c.3528delC (p.Lys1177Serfs)
- NM_000492.3(CFTR):c.1679G>C (p.Arg560Thr)
- NM_000492.3(CFTR):c.2657+5G>A
Variants detected by NGS technology
- NGS can detect up to 95% of the known variants linked to cystic fibrosis.
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Sickle cell anemia carriers do not have sickle cell anemia but their children might. Sickle cell anemia is an inherited disease that affects red blood cells, which carry oxygen throughout the body. The disease causes red blood cells to change shape and no longer work well. That can lead to severe pain, vision problems, organ damage, stroke, and a shorter lifespan. If both biological parents are carriers of sickle cell anemia, then each of their children has a 1 in 4 chance of developing the condition. Knowing whether they are a carrier of sickle cell anemia is especially important for people who are planning on having children.
Variants detected by microarray and NGS technology
- Both microarray and NGS technology can detect the only known variant in the HBB gene linked to sickle cell anemia.
HBB
- NM_000518.5(HBB):c.20A>T (p.Glu7Val)
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Tay-Sachs carriers do not have Tay-Sachs disease but their children might. Tay-Sachs disease 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. If both biological parents are carriers of Tay-Sachs disease, then each of their children has a 1 in 4 chance of developing the disease. Knowing whether they are a carrier of Tay-Sachs disease is especially important for people who are planning on having children.
Variants detected by microarray technology
HEXA
- NM_000520.5(HEXA):c.1421+1G>C
- NM_000520.5(HEXA):c.1274_1277dup (p.Tyr427Ilefs)
- NM_000520.5(HEXA):c.1073+1G>A
- NM_000520.5(HEXA):c.1073+1G>T
Variants detected by NGS technology
- NGS can detect up to 95% of the known variants linked to Tay-Sachs disease.
Connective Tissue Disorders
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Classical Ehlers-Danlos syndrome (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.
Variants detected by NGS technology
- NGS can detect over 90% of the known variants in two genes linked to classical Ehlers-Danlos syndrome.
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Familial thoracic aortic aneurysm and dissection (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 your heart to the rest of your body. It can lead to a higher chance of an aneurysm and/or dissection in this blood vessel.
Variants detected by NGS technology
- Somewhere between 12-20% of familial thoracic aortic aneurysm and dissection cases are explained by known variants in the gene this test analyzes, the ACTA2 gene. NGS can detect up to 90% of these variants.
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Loeys-Dietz syndrome (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 (when the spine curves to the side), a cleft palate (an opening in the roof of the mouth), and other issues.
Variants detected by NGS technology
- More than 80% of Loeys-Dietz syndrome cases are explained by known variants in the four genes this test analyzes. NGS can detect over 90% of these variants.
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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 (when the spine curves to the side), or a sunken or protruding chest.
Variants detected by NGS technology
- NGS can detect over 90% of the known variants in the FBN1 gene linked to Marfan syndrome.
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Vascular Ehlers-Danlos syndrome (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. A rupture is when a blood vessel splits all the way open. 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 other organs, including the uterus in pregnant women.
Variants detected by NGS technology
- NGS can detect over 90% of the known variants linked to Vascular Ehlers-Danlos syndrome.
Heart and Blood Health
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Cardiomyopathy can cause serious heart problems, such as irregular heartbeat or heart failure. Cardiomyopathy is a heart disease that damages the heart muscle. This can cause problems ranging from shortness of breath to, in some cases, heart failure.
Variants detected by microarray technology
MYBPC3
- NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
- NM_000256.3(MYBPC3):c.3330+2T>C
- NM_000256.3(MYBPC3):c.3330+2T>G
- NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)
- NM_000256.3(MYBPC3):c.1928-2A>G
- NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)
MYH7
- NM_000257.3(MYH7):c.2722C>G (p.Leu908Val)
- NM_000257.3(MYH7):c.5135G>A (p.Arg1712Gln)
- NM_000257.3(MYH7):c.2717A>G (p.Asp906Gly)
Variants detected by NGS technology
- NGS can detect up to 80% of the known variants in two genes linked to cardiomyopathy, an inherited heart condition that can lead to issues like arrhythmia or heart failure.
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Familial hypercholesterolemia can lead to very high cholesterol and an increased chance of developing heart problems. FH is linked to very high levels of the bad form of cholesterol, known as LDL. If these high levels of LDL cholesterol are untreated, FH can increase the chances of having a heart attack and other serious heart problems.
Variants detected by microarray technology
APOB
- NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln)
- NM_000384.2(APOB):c.10580G>T (p.Arg3527Leu)
LDLR
- NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr)
- NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn)
- NM_000527.4(LDLR):c.1444G>T (p.Asp482Tyr)
- NM_000527.4(LDLR):c.2140+1G>A
- NM_000527.4(LDLR):c.2140+1G>T
- NM_000527.4(LDLR):c.1358+2T>A
- NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu)
Variants detected by NGS technology
- NGS can detect over 90% of the known variants linked to an inherited condition that can cause an increased risk for very high cholesterol, and includes the gene PCSK9 not tested with microarray technology.
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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.
Variants detected by microarray and NGS technology
- Both microarray and NGS technology are designed to detect the same two variants in the HFE gene. These two variants account for more than 90% of the cases of type 1 hereditary hemochromatosis.
HFE
- NM_000410.3(HFE):c.187C>G (p.His63Asp)
- NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)
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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.
Variants detected by microarray and NGS technology
- Both microarray and NGS can detect two of the known variants linked to the most common genetic cause of an increased risk for abnormal blood clots. These are the two most common variants linked to hereditary thrombophilia.
F2
- NM_000506.4(F2):c.*97G>A
F5
- NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
