Incidental findings

arcensus sequences your entire DNA, however the entire genome is not interpreted. We analyse:

- the genes that are included in the genetic sequencing product you have selected and

- the genes that belong to the incidental findings – in the case you have consented to do so.

The phrase “incidental findings” has a special definition; we call “incidental findings” those results that are not related to the reason (indication) why you have ordered the sequencing. “Incidental findings”, however, are potentially causing a disease with – if symptoms are present or even preventively - available treatment options. Based on the recommendations of the American College of Medical Genetics (ACMG), there is a list of 73 genes that can cause 82 disorders that are considered “incidental findings”.

arcensus will take this ACMG list as a basis but will continuously update the list and add new genes – based on newest data and scientific insights. Independent of the product you purchased, arcensus can inform you about the “incidental findings” if you consent it/them to be reported.

Gene Gene OMIM# Disease Disease OMIM# Key considerations
ACTA2 102620 Familial thoracic aortic aneurysm 611788 Regular assessment of the large arteries (including aorta) by sonography (MRI). Medications can slow aneurism formation. Surgery of the arteries can normalize the pathology .
ACTC1 102540 Hypertrophic cardiomyopathy 612098 Affected Individuals may be treated with a specific medication. If drug therapy does not work, a permanent pacemaker or defibrillator may be implanted. Surgery may be a treatment option in case of restricted blood flow.
ACVRL1 601284 Hereditary hemorrhagic telangiectasia 600376 "Behacizumab", a specific new medication (anti-VEGF antibody) which has been introduced recently, targets VEGF (vascular endothelial growth factor) and the angiogenic pathway.
APC 611731 Familial adenomatous polyposis 175100 Annual colonoscopy, removal of adenomatous polyps. Bowel surgery might be considered.
APOB 107730 Familial hypercholesterolemia 144010 Cholesterol lowering medication (should begin as soon as possible after diagnosis). Treatment of coronary atherosclerosis may include coronary angioplasty, stents, and lifestyle modifications (e.g., smoking cessation, dietary changes, weight control, physical activity).
ATP7B 606882 Wilson disease 277900 Life-long administration of chelating agents (D-penicillamine, trientine salts) or zinc salt is recommended. Liver transplantation is under specific condition extremely helpful in cases of liver failure.
BMPR1A 601299 Juvenile polyposis syndrome 174900 Management should involve routine colonoscopy; endoscopic polypectomy is the gold standard for treatment. Due to the risk of cancer and polyposis extension, surgical colectomy (large bowel removal) may be proposed.
BRCA1 113705 Hereditary breast and ovarian cancer 604370 From the age of 25 years onwards, an annual mammography (magnetic resonance imaging), bi-annual transvaginal ultrasound, and a CA-125 antigen test are prescribed. In men: clinical breast exam from 35 years of age on, PSA test annually; in premenopausal women prophylactic bilateral mastectomy and prophylactic bilateral salpingo-oophorectomy can be considered.
BRCA2 600185 Hereditary breast and ovarian cancer 612555 From 25 years of age on, annual mammography (magnetic resonance imaging), every 6 months transvaginal ultrasound + CA-125 antigen test. In men: clinical breast exam from 35 years of age on, PSA test annually; in premenopausal women prophylactic bilateral mastectomy and prophylactic bilateral salpingo-oophorectomy can be considered.
BTD 609019 Biotinidase deficiency 253260 Supplementation with oral biotin in the free, non-protein bound, form is the primary treatment and improves symptoms in symptomatic patients, and prevents symptoms in those identified by new-born screening or before symptoms have developed.
CACNA1S 114208 Malignant hyperthermia 601887 Affected individuals have to avoid volatile anaesthetics and the depolarizing muscle relaxant.
CASQ2 114251 Catecholaminergic polymorphic ventricular tachycardia 611938 The first pharmacological line is non-selective beta-blockers without sympathomimetic activity. Flecainide is considered the first-choice addition when the effect of beta-blockers is not complete. In patients who are refractory to pharmacologic treatment, left cardiac sympathetic denervation (LCSD) can be performed. Finally, in patients who are refractory to maximal pharmacologic treatment and LCSD (or LCSD is not available) an implanted cardioverter defibrillator (ICD) is indicated.
COL3A1 120180 Ehlers-Danlos syndrome, vascular type 130050 Regular screening for hypertension and arterial disease (e.g., aortic aneurism, intracranial aneurism) by ultrasound, MRI, or CT should be conducted. The treatment includes lowering blood pressure and aortic surgery to prevent dissection and disruption of aortic aneurism.
DSC2 125645 Arrhythmogenic right ventricular cardiomyopathy 610476 Arrhythmic medications and anticoagulants are given. In patients with persistent symptomatic arrhythmias, ablation of conduction pathways may be attempted. Patients with any high risk of sudden death require insertion of an implantable cardioverter-defibrillator (ICD).
DSG2 125671 Arrhythmogenic right ventricular cardiomyopathy 610193 Primary treatment and prevention involves arrhythmic medications and anticoagulants. In patients with persistent symptomatic arrhythmias, ablation of conduction pathways may be attempted. Patients with any high risk of sadden death require insertion of an implantable defibrillator (ICD).
DSP 125647 Arrhythmogenic right ventricular cardiomyopathy 607450 Primary treatment involves arrhythmic medications and anticoagulants. In patients with persistent symptomatic arrhythmias, ablation of conduction pathways may be attempted. Patients with any high risk of sudden death require insertion of an implantable defibrillator (ICD).
DSP 125647 Dilated cardiomyopathy 615821 Affected individuals should be screened for structural and functional (e.g., arrythmia) heart abnormalities. Treatment of dilated cardiomyopathy may include a) drugs (e.g., angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), beta-blockers), implantable devices (e.g., biventricular pacemaker, implantable cardioverter-defibrillators)
ENG 131195 Hereditary haemorrhagic telangiectasia 187300 The therapeutic treatments for HHT were intended to reduce the symptoms of the disease. However, new drug, bevacizumab (anti-VEGF antibody), has been introduced recently that target VEGF (vascular endothelial growth factor) and the angiogenic pathway.
FBN1 134797 Marfan syndrome 154700 Management aims to limit aortic dilation (medications and a reduction in sport activities) and regularly monitor the aorta (annual echocardiograms) to allow the aortic root to be replaced before dissection occurs. Surgery can also be offered for skeletal and ocular anomalies.
FLNC 102565 Dilated cardiomyopathy 617047 Affected individuals should be screened for structural and functional (e.g., arrythmia) heart abnormalities. Treatment of dilated cardiomyopathy may include drugs (e.g., angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), beta-blockers), implantable devices (e.g., biventricular pacemaker, implantable cardioverter-defibrillators)
GAA 606800 Pompe disease 232300 Enzyme replacement therapy (ERT) is an approved treatment for all patients with Pompe disease. It involves the intravenous administration of recombinant human acid alpha-glucosidase (rhGAA).
GLA 300644 Fabry disease 301500 Enzyme replacement therapy (ERT) is the cornerstone for treatment of Fabry disease. Two forms of the recombinant enzyme are available: agalsidase alpha and agalsidase beta.
HFE 613609 Hereditary hemochromatosis (c.845G>A; p.C282Y homozygotes only) 235200 Treatments for hemochromatosis include therapeutic phlebotomy, iron chelation therapy, dietary changes, and treatment for complications. The goals of treating hemochromatosis include: reducing the amount of iron in your body to normal levels.
HNF1A 142410 Maturity-Onset of Diabetes of the Young 600496 MODY patients likely respond to high dose sulfonylureas (e.g., glibenclamide).
KCNH2 152427 Long-QT syndrome type 2 613688 The treatment of choice for long QT syndrome affected individuals (symptomatic and asymptomatic) is drug therapy with beta-adrenergic blocking agents. Individuals for whom beta blockers are unsuccessful or contraindicated may be treated by a surgical procedure with left cardiac sympathetic denervation. For affected individuals who have been resuscitated from cardiac arrest (whether on or off beta blockers), treatment with an implantable automatic cardioverter-defibrillator (ICD) is considered.
KCNQ1 607542 Long-QT syndrome type 1 192500 The treatment of choice for long QT syndrome affected individuals (symptomatic and asymptomatic) is drug therapy with beta-adrenergic blocking agents. Individuals for whom beta blockers are unsuccessful or contraindicated may be treated by a surgical procedure with left cardiac sympathetic denervation. For affected individuals who have been resuscitated from cardiac arrest (whether on or off beta blockers), treatment with an implantable automatic cardioverter-defibrillator (ICD) is considered.
LDLR 606945 Familial hypercholesterolemia 143890 Dietary changes, cholesterol lowering medication (begin as soon as possible after diagnosis). Treatment of coronary atherosclerosis may include lifestyle modification (e.g., smoking cessation, weight control, physical activity), drugs, coronary angioplasty, and stents.
LMNA 150330 Dilated cardiomyopathy 115200 Affected individuals should be screened for structural and functional (e.g., arrythmia) heart abnormalities. Treatment of dilated cardiomyopathy may include a) drugs (e.g., angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), beta-blockers), implantable devices (e.g., biventricular pacemaker, implantable cardioverter-defibrillators)
MAX 154950 Hereditary paraganglioma-pheochromocytoma syndrome 171300 Blood and urine analysis to detecting elevated levels of catecholamines or its metabolites should be performed. A specialized test, the clonidine suppression test, may be performed to rule out other causes of elevated catecholamines. Imaging techniques such as computed tomography (CT scan) and magnetic resonance imaging (MRI) are often performed to determine the specific location and size of a pheochromocytoma. Surgery is the main form of treatment for pheochromocytoma.
MEN1 613733 Multiple endocrine neoplasia type 1 131100 Annual life-long screening is recommended for all the carriers of a MEN1 mutations. Six-monthly screening with CT, MRI and blood biochemistry is recommended). Treatment by surgery is based on approaches for each specific tumour. Pharmacological therapies are available for treatment of hormone over-secretion and related syndromes; calcimimetic can be used to treat primary hyperparathyroidism in patients in whom surgery had either failed or was contraindicated; bone anti-resorptive agents are used to reduce hypercalcemia and limit bone resorption; dopamine agonists are used for prolactinoma; somatostatin analogs for growth hormone secreting tumours and for controlling the secretory hyperfunction.
MLH1 120436 Lynch syndrome 609310 Several medical options are available for managing cancer risks in people who have Lynch syndrome. Colonoscopies every 1-2 years starting between the ages of 20-25 (or 2-5 years before the earliest colorectal cancer in the family) are the most effective way to prevent colorectal cancer. Other available options may reduce the chance of developing cancer or improve the likelihood of detecting it earlier: aspirin use to reduce the risk of colorectal cancer; transvaginal ultrasound and endometrial biopsy every 1–2 years, beginning at age 30–35 years, to detect endometrial cancer; CA-125 blood tests every year to detect ovarian cancer; hysterectomy and bilateral salpingo-oophorectomy to prevent gynaecologic cancers; upper endoscopies every 3-5 years starting between the ages of 30-35 to detect stomach and small bowel cancer.
MSH2 609309 Lynch syndrome 120435 Several medical options are available for managing cancer risks in people who have Lynch syndrome. Colonoscopies every 1-2 years starting between the ages of 20-25 (or 2-5 years before the earliest colorectal cancer in the family) are the most effective way to prevent colorectal cancer. Other available options may reduce the chance of developing cancer or improve the likelihood of detecting it earlier: aspirin use to reduce the risk of colorectal cancer; transvaginal ultrasound and endometrial biopsy every 1–2 years, beginning at age 30–35 years, to detect endometrial cancer; CA-125 blood tests every year to detect ovarian cancer; hysterectomy and bilateral salpingo-oophorectomy to prevent gynaecologic cancers; upper endoscopies every 3-5 years starting between the ages of 30-35 to detect stomach and small bowel cancer.
MSH6 600678 Lynch syndrome 614350 Several medical options are available for managing cancer risks in people who have Lynch syndrome. Colonoscopies every 1-2 years starting between the ages of 20-25 (or 2-5 years before the earliest colorectal cancer in the family) are the most effective way to prevent colorectal cancer. Other available options may reduce the chance of developing cancer or improve the likelihood of detecting it earlier: aspirin use to reduce the risk of colorectal cancer; transvaginal ultrasound and endometrial biopsy every 1–2 years, beginning at age 30–35 years, to detect endometrial cancer; CA-125 blood tests every year to detect ovarian cancer; hysterectomy and bilateral salpingo-oophorectomy to prevent gynaecologic cancers; upper endoscopies every 3-5 years starting between the ages of 30-35 to detect stomach and small bowel cancer.
MUTYH 604933 MUTYH-associated polyposis 608456 Colonoscopy every 1 to 2 years, beginning at age 25 to 30; once a person develops polyps, the colonoscopy frequency may be increased with the goal of removing all large polyps. If an individual develops colorectal cancer or if colon polyps are too numerous to be removed during a colonoscopy, surgery may be considered.
MYBPC3 600958 Hypertrophic cardiomyopathy 115197 Affected Individuals have to be treated with drugs. If drug therapy does not work, a permanent pacemaker or defibrillator may be implanted. Surgery may be a treatment option in case of restricted blood flow.
MYH11 160745 Familial thoracic aortic aneurysm 132900 Regular assessment of the large arteries (including aorta) by sonography (MRI). Medications can slow aneurism formation. Surgery of the arteries can normalize the pathology .
MYH7 160760 Hypertrophic cardiomyopathy 192600 Affected Individuals may be treated with drugs. If drug therapy does not work, a permanent pacemaker or defibrillator may be implanted. Surgery may be a treatment option in case of restricted blood flow.
MYH7 160760 Dilated cardiomyopathy 613426 Affected individuals should be screened for structural and functional (e.g., arrythmia) heart abnormalities. Treatment of dilated cardiomyopathy may include a) drugs (e.g., angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), beta-blockers), implantable devices (e.g., biventricular pacemaker, implantable cardioverter-defibrillators)
MYL2 160781 Hypertrophic cardiomyopathy 608758 Affected Individuals may be treated with drugs. If drug therapy does not work, a permanent pacemaker or defibrillator may be implanted. Surgery may be a treatment option in case of restricted blood flow.
MYL3 160790 Hypertrophic cardiomyopathy 608751 Affected Individuals may be treated with drugs. If drug therapy does not work, a permanent pacemaker or defibrillator may be implanted. Surgery may be a treatment option in case of restricted blood flow.
NF2 607379 Neurofibromatosis type 2 101000 Yearly magnetic resonance imaging (MRI), beginning in the teenage years. Hearing evaluations, including audiometry and a brain stem auditory evoked response (BERA).
OTC 300461 Ornithine transcarbamylase deficiency 311250 Dietary restrictions in individuals with OTC deficiency are aimed at limiting the amount of protein intake. The sodium phenylbutyrate phenylbutyrate are used for the treatment of chronic hyperammonaemia, sodium phenylacetate and sodium benzoate are used to treat acute hyperammonaemia in affected Individuals. Individuals with OTC deficiency benefit from treatment with arginine, or its precursor citrulline, which are needed to maintain a normal rate of protein synthesis. Multiple vitamins and calcium supplements may also be used.
PALB2 610355 Hereditary breast cancer 114480 Annual mammography (magnetic resonance imaging) from 25 years.
PCSK9 607786 Familial hypercholesterolemia 603776 Dietary changes, cholesterol lowering medication (should begin as soon as possible after diagnosis). Treatment of coronary atherosclerosis may include lifestyle modification (e.g., smoking cessation, weight control, physical activity), drugs, coronary angioplasty, and stents.
PKP2 602861 Arrhythmogenic right ventricular cardiomyopathy 609040 Primary treatment involves arrhythmic medications and anticoagulants. In patients with persistent symptomatic arrhythmias, ablation of conduction pathways may be attempted. Patients with any high risk of sadden death require insertion of an implantable cardioverter-defibrillator (ICD). Heart failure is treated in the usual way, with diuretics, ACE inhibitors and anticoagulants, in severe cases, cardiac transplantation may be required.
PMS2 600259 Lynch syndrome 614337 Several medical options are available for managing cancer risks in people who have Lynch syndrome. Colonoscopies every 1-2 years starting between the ages of 20-25 (or 2-5 years before the earliest colorectal cancer in the family) are the most effective way to prevent colorectal cancer. Other available options may reduce the chance of developing cancer or improve the likelihood of detecting it earlier: aspirin use to reduce the risk of colorectal cancer; transvaginal ultrasound and endometrial biopsy every 1–2 years, beginning at age 30–35 years, to detect endometrial cancer; CA-125 blood tests every year to detect ovarian cancer; hysterectomy and bilateral salpingo-oophorectomy to prevent gynaecologic cancers; upper endoscopies every 3-5 years starting between the ages of 30-35 to detect stomach and small bowel cancer.
PRKAG2 602743 Hypertrophic cardiomyopathy 600858 Affected Individuals may be treated with drugs. If drug therapy does not work, a permanent pacemaker or defibrillator may be implanted. Surgery may be a treatment option in case of restricted blood flow.
PTEN 601728 PTEN hamartoma tumour syndrome 158350 Affected individuals of all ages: an annual thyroid ultrasound scan and an annual skin exam. Starting at age 30: affected women - an annual mammogram; an annual breast MRI and an annual endometrial biopsy or transvaginal ultrasound. Starting at age 40: all affected adults - a colonoscopy every 2 years, - a kidney ultrasound scan or MRI every 2 years. Preventive surgery: affected women - a prophylactic bilateral mastectomy and hysterectomy may be considered.
RB1 614041 Retinoblastoma 180200 Children need to be examined by an ophthalmologist immediately after birth. These examinations should be continued for the next 5-6 years, at least, once every 2-6 months.
RET 164761 Familial medullary thyroid cancer 155240 The thyroid gland should be surgically removed to prevent cancer from developing
RET 164761 Multiple endocrine neoplasia type 2A 171400 The thyroid gland should be surgically removed to prevent cancer from developing. For patients with moderate risk mutations, surgery can be postponed until calcitonin becomes elevated or in childhood. However, close monitoring by an experienced medical professional is important. Yearly blood tests for ionized calcium and parathyroid hormone levels, beginning in childhood, for catecholamines and catecholamine metabolites (metanephrine and normetanephrine), beginning in childhood; magnetic resonance imaging (MRI) or computerized tomography (CT or CAT) scan of the abdomen to detect pheochromocytomas, every 4 to 5 years or when abnormal catecholamine or metanephrine levels are detected.
RET 164761 Multiple endocrine neoplasia type 2B 162300 The thyroid gland should be surgically removed to prevent cancer from developing. Additional screening recommendations may include: yearly blood tests for catecholamines and catecholamine metabolites (metanephrine and normetanephrine), beginning in childhood; magnetic resonance imaging (MRI) or computerized tomography (CT or CAT) scan of the abdomen to detect pheochromocytomas, every 4 to 5 years or when abnormal catecholamine or metanephrine levels are detected.
RPE65 180069 RPE65-related retinopathy 204100, 613794 Treatment is primarily aimed at slowing progression of the disease. Vitamin A palmitate and lutein-DHA may be provided as protecting antioxidants. Oral acetazolamide or topical dorzolamide are used to reduce cystoid macular edema. Lens extraction is required when cataracts reduce visual acuity. Sunglasses with short wavelength filtering improve visual performance and optical aids are recommended.
RYR1 180901 Malignant hyperthermia 145600 Affected individuals should avoid volatile aesthetic and the depolarizing muscle relaxant.
RYR2 180902 Catecholaminergic polymorphic ventricular tachycardia 604772 The first line pharmacological regimen is non-selective beta-blockers, without sympathomimetic activity, flecainide is considered the first-choice addition, when the effect of beta-blockers is not complete. In patients who are refractory to pharmacologic treatment, left cardiac sympathetic denervation (LCSD) can be performed. Finally, in patients who are refractory to maximal pharmacologic treatment and LCSD (or LCSD is not available) an implanted cardioverter defibrillator (ICD) is indicated.
SCN5A 600163 Long QT syndrome type 3 603830 The treatment of choice for Long QT syndrome affected individuals (symptomatic and asymptomatic) is drug therapy with beta-adrenergic blocking agents. Individuals for whom beta blockers are unsuccessful or contraindicated may be treated by a surgical procedure with left cardiac sympathetic denervation. For affected individuals who have been resuscitated from cardiac arrest (whether on or off beta blockers), treatment with an implantable automatic cardioverter-defibrillator (ICD) is considered.
SCN5A 600163 Brugada syndrome 601144 The following can be recommended. Lifestyle changes: avoidance of drugs that may induce ST-segment elevation, avoidance of excessive alcohol intake and large meals, prompt treatment of any fever with antipyretic drugs. Implantation of implantable cardioverter defibrillator (ICD) in patients who are survivors of a cardiac arrest or have documented spontaneous sustained ventricular tachycardia (VT) is recommended. Quinidine or isoproterenol are recommended to treat electrical storms (recurrent episodes of ventricular arrhythmias) and for those individuals who qualify for an ICD but present a contraindication or refuse it. Consideration for catheter ablation is recommended in patients with a history of electrical storms or repeated appropriate ICD shocks. Special recommendations for the athletes are given by American Heart Association and the American College of Cardiology.
SCN5A 600163 Dilated cardiomyopathy 601154 Affected individuals should be screened for structural and functional (e.g., arrythmia) heart abnormalities. Treatment of dilated cardiomyopathy may include a) drugs (e.g., angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), beta-blockers), implantable devices (e.g., biventricular pacemaker, implantable cardioverter-defibrillators)
SDHAF2 613019 Hereditary paraganglioma-pheochromocytoma syndrome 601650 Blood and urine analysis to detecting elevated levels of catecholamines or its metabolites should be performed. A specialized test, the clonidine suppression test, may be performed to rule out other causes of elevated catecholamines. Imaging techniques such as computed tomography (CT scan) and magnetic resonance imaging (MRI) are often performed to determine the specific location and size of a pheochromocytoma. Surgery is the main form of treatment for pheochromocytoma.
SDHB 185470 Hereditary paraganglioma-pheochromocytoma syndrome 115310, 171300 Blood and urine analysis to detecting elevated levels of catecholamines or its metabolites should be performed. A specialized test, the clonidine suppression test, may be performed to rule out other causes of elevated catecholamines. Imaging techniques such as computed tomography (CT scan) and magnetic resonance imaging (MRI) are often performed to determine the specific location and size of a pheochromocytoma. Surgery is the main form of treatment for pheochromocytoma.
SDHC 602413 Hereditary paraganglioma-pheochromocytoma syndrome 605373 Blood and urine analysis to detecting elevated levels of catecholamines or its metabolites should be performed. A specialized test, the clonidine suppression test, may be performed to rule out other causes of elevated catecholamines. Imaging techniques such as computed tomography (CT scan) and magnetic resonance imaging (MRI) are often performed to determine the specific location and size of a pheochromocytoma. Surgery is the main form of treatment for pheochromocytoma.
SDHD 602690 Hereditary paraganglioma-pheochromocytoma syndrome 168000, 171300 Blood and urine analysis to detecting elevated levels of catecholamines or its metabolites should be performed. A specialized test, the clonidine suppression test, may be performed to rule out other causes of elevated catecholamines. Imaging techniques such as computed tomography (CT scan) and magnetic resonance imaging (MRI) are often performed to determine the specific location and size of a pheochromocytoma. Surgery is the main form of treatment for pheochromocytoma.
SMAD3 603109 Loeys-Dietz syndrome 613795 The following treatments are recommended: blood-pressure lowering medications (angiotensin receptor blockers and or beta-blockers); a baseline CTA or MRA of the head, neck, chest, abdomen, and pelvis to detect and monitor aneurysm formation and/or dissections; continued monitoring of the aorta through annual echocardiograms is necessary. Vascular surgery can be a treatment option as a preventative surgery for individuals with a rapidly enlarging aorta or artery.
SMAD4 600993 Juvenile polyposis syndrome 174900 Management involves routine colonoscopy. Endoscopic polypectomy is the gold standard for treatment. Due to the risk of cancer and polyposis extension, surgical colectomy (large bowel removal) may be proposed.
SMAD4 600993 Hereditary haemorrhagic telangiectasia 175050 The therapeutic treatments for HHT were intended to reduce the symptoms of the disease. However, new drug, bevacizumab (anti-VEGF antibody), has been introduced recently that target VEGF (vascular endothelial growth factor) and the angiogenic pathway.
STK11 602216 Peutz-Jeghers syndrome 175200 General cancer screening for anyone with PJS: Upper endoscopy and video capsule endoscopy, beginning at age 8. If polyps are seen, this should be repeated every 2 to 3 years. If no polyps are seen at age 8, these should be repeated by age 18, and then every 2 to 3 years afterwards.
TGFBR1 190181 Loeys-Dietz syndrome 609192 The following treatments are recommended: blood-pressure lowering medications (angiotensin receptor blockers and or beta-blockers); a baseline CTA or MRA of the head, neck, chest, abdomen, and pelvis to detect and monitor aneurysm formation and/or dissections; continued monitoring of the aorta through annual echocardiograms is necessary. Vascular surgery can be a treatment option as a preventative surgery for individuals with a rapidly enlarging aorta or artery.
TGFBR2 190182 Loeys-Dietz syndrome 610168 The following treatments are recommended: blood-pressure lowering medications (angiotensin receptor blockers and or beta-blockers); a baseline CTA or MRA of the head, neck, chest, abdomen, and pelvis to detect and monitor aneurysm formation and/or dissections; continued monitoring of the aorta through annual echocardiograms is necessary. Vascular surgery can be a treatment option as a preventative surgery for individuals with a rapidly enlarging aorta or artery.
TMEM127 613403 Hereditary paraganglioma-pheochromocytoma syndrome 171300 Blood and urine analysis to detecting elevated levels of catecholamines or its metabolites should be performed. A specialized test, the clonidine suppression test, may be performed to rule out other causes of elevated catecholamines. Imaging techniques such as computed tomography (CT scan) and magnetic resonance imaging (MRI) are often performed to determine the specific location and size of a pheochromocytoma. Surgery is the main form of treatment for pheochromocytoma.
TMEM43 612048 Arrhythmogenic right ventricular cardiomyopathy 604400 Primary treatment involves arrhythmic medications and anticoagulants. In patients with persistent symptomatic arrhythmias, ablation of conduction pathways may be attempted. Patients with any high risk of sadden death require insertion of an implantable cardioverter-defibrillator (ICD). Heart failure is treated in the usual way, with diuretics, ACE inhibitors and anticoagulants, in severe cases, cardiac transplantation may be required.
TNNI3 191044 Hypertrophic cardiomyopathy 613690 Affected Individuals may be treated with drugs. If drug therapy does not work, a permanent pacemaker or defibrillator may be implanted. Surgery may be a treatment option in case of restricted blood flow.
TNNT2 191045 Dilated cardiomyopathy 601494 Affected individuals should be screened for structural and functional (e.g., arrythmia) heart abnormalities. Treatment of dilated cardiomyopathy may include a) drugs (e.g., angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), beta-blockers), implantable devices (e.g., biventricular pacemaker, implantable cardioverter-defibrillators)
TNNT2 191045 Hypertrophic cardiomyopathy 115195 Affected Individuals may be treated with drugs. If drug therapy does not work, a permanent pacemaker or defibrillator may be implanted. Surgery may be a treatment option in case of restricted blood flow.
TP53 191170 Li-Fraumeni syndrome 151623 Children. Adrenocortical carcinoma: ultrasound of abdomen and pelvis every 3 to 4 months; complete urinalysis every 3 to 4 months: blood tests every 4 months (β-human chorionic gonadotropin, alpha-fetoprotein, 17-OH-progesterone, testosterone, dehydroepiandrosterone sulphate, and androstenedione) Brain tumour: annual brain MRI; soft tissue and bone sarcoma; annual, rapid whole-body MRI. Leukaemia or lymphoma: complete blood count (CBC), erythrocyte sedimentation rate, lactate dehydrogenase every 4 months. Adults. Breast cancer: monthly breast self-examination, starting at age 18; clinical breast examination twice a year, annual breast MRI (mammography) and twice-yearly clinical breast examination, which is an examination by a health professional, beginning at age 20 to 25 (mammograms should not be started younger than age 30)
TPM1 191010 Hypertrophic cardiomyopathy 115196 Affected Individuals may be treated with drugs. If drug therapy does not work, a permanent pacemaker or defibrillator may be implanted. Surgery may be a treatment option in case of restricted blood flow.
TRDN 603283 Catecholaminergic polymorphic ventricular tachycardia 615441 The first line pharmacological regimen is non-selective beta-blockers, without sympathomimetic activity, flecainide is considered the first-choice addition, when the effect of beta-blockers is not complete. In patients who are refractory to pharmacologic treatment, left cardiac sympathetic denervation (LCSD) can be performed. Finally, in patients who are refractory to maximal pharmacologic treatment and LCSD (or LCSD is not available) an implanted cardioverter defibrillator (ICD) is indicated.
TRDN 603283 Long QT syndrome n/a The treatment of choice for Long QT syndrome affected individuals (symptomatic and asymptomatic) is drug therapy with beta-adrenergic blocking agents. Individuals for whom beta blockers are unsuccessful or contraindicated may be treated by a surgical procedure with left cardiac sympathetic denervation. For affected individuals who have been resuscitated from cardiac arrest (whether on or off beta blockers), treatment with an implantable automatic cardioverter-defibrillator (ICD) is considered.
TSC1 605284 Tuberous sclerosis complex 191100 Ultrasound of the kidneys every 1 to 3 years. Magnetic resonance imaging (MRI) or computed tomography (CT or CAT) scans of the kidneys, following an ultrasound evaluation.
TSC2 191092 Tuberous sclerosis complex 613254 Ultrasound of the kidneys every 1 to 3 years. Magnetic resonance imaging (MRI) or computed tomography (CT or CAT) scans of the kidneys, following an ultrasound evaluation.
TTN 188840 Dilated cardiomyopathy (truncating variants only) 604145 Affected individuals should be screened for structural and functional (e.g., arrythmia) heart abnormalities. Treatment of dilated cardiomyopathy may include a) drugs (e.g., angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), beta-blockers), implantable devices (e.g., biventricular pacemaker, implantable cardioverter-defibrillators)
VHL 608537 Von Hippel-Lindau syndrome 193300 Affected individuals may develop various malignancies including retinal hemangioblastomas, cerebellar hemangioblastomas, kidney cancer, epididymal cystadenomas, spinal cord hemangioblastomas, endolymphatic sac tumours, brain stem hemangioblastomas, pheochromocytomas/paragangliomas, pancreatic neuroendocrine tumours, broad ligament cystadenomas. Screening for new tumours or active surveillance for known tumours are both very important aspects of care.
WT1 607102 WT1-related Wilms tumour 194070 Screening should be carried out by renal ultrasonography every 3–4 months. Surveillance should continue until 5-7 years of age.

Let us take a look at an example!

Familial hypercholesterolemia is a genetic disorder that affects the metabolism of lipoproteins and is characterized by severely elevated special cholesterol levels (so called low density lipoproteins). In the early stages, this disease will not display any symptoms. However, if left untreated, atherosclerosis may take place manifesting in the future as chest pain, heart attacks, and even sudden death. Disease causing (so called pathogenic) changes of your DNA sequence (variants) in 3 genes lead to this genetic disease. If a person has a pathogenic variant in one of these gene, he/she is diagnosed with this condition. Available treatment options can reduce the cholesterol concentration in the body, i.e., to delay or even stop cholesterol accumulation and thus preventing atherosclerosis.

Thus, if

1)      you order a product, that does not include the 3 genes whose pathogenic variants cause Familial hypercholesterolemia

but

2)    you consent incidental findings to be reported

and

3)      at least one pathogenic variant in the 3 gene(s) is detected

your medical report will include this incidental finding(s) of Familial Hypercholesteremia. arcensus also offers you a professional genetic counseling. Whenever you want to receive further clarifications or want to speak to one of our genetic experts, please contact us at the email address [email protected]