{"id":1735,"date":"2021-06-19T11:02:13","date_gmt":"2021-06-19T11:02:13","guid":{"rendered":"https:\/\/www.toplinemd.com\/pemc-florida\/?p=1735"},"modified":"2021-06-22T11:22:38","modified_gmt":"2021-06-22T11:22:38","slug":"how-are-genetic-conditions-diagnosed%e2%80%8f","status":"publish","type":"post","link":"https:\/\/www.toplinemd.com\/pemc-florida\/how-are-genetic-conditions-diagnosed%e2%80%8f\/","title":{"rendered":"How Are Genetic Conditions Diagnosed?\u200f"},"content":{"rendered":"<p><span style=\"font-weight: 400\">Currently, more than 1200 genetic disorders are known to exist. With proper testing, doctors can identify most of these conditions in children. A\u200f \u200fgenetic specialist can use several methods to diagnose chromosome disorders. These include biochemical testing, karyotyping, preimplantation genetic diagnosis, and neonatal genetic screening.\u200f<\/span><\/p>\n<h2><span style=\"font-weight: 400\">\u200f<\/span><b>How Can Genetics Help to Predict Diseases?<\/b><span style=\"font-weight: 400\">\u200f<\/span><\/h2>\n<p><span style=\"font-weight: 400\">\u200fOur genetic makeup is capable of influencing our susceptibility to various external forces. This causes some people to be more likely to succumb to asthma, diabetes, and heart disease. As such, it\u2019s crucial to visit <\/span><a href=\"\/pemc-florida\/genetic-disorders\/\" target=\"_blank\" rel=\"nofollow noopener\"><span style=\"font-weight: 400\">a genetic specialist<\/span><\/a><span style=\"font-weight: 400\"> \u200fwith your child anytime you suspect a genetic condition. In some instances, genetic predispositions can also modulate the severity of the disease condition and how it responds to treatment. \u200f<\/span><\/p>\n<h2><span style=\"font-weight: 400\">\u200f<\/span><b>What Are the Physical Symptoms of Genetic Disorders?\u200f<\/b><\/h2>\n<p><span style=\"font-weight: 400\">\u200fSome symptoms might help you identify or suspect childhood genetic diseases. However, you must note that you might also see some of these in children without chromosome disorders. Therefore, it&#8217;s imperative to check with a\u200f \u200fgenetic specialist \u200fif your child is displaying some of the following features: \u200f<\/span><\/p>\n<ul>\n<li><span style=\"font-weight: 400\"> \u200fEyes with an unusual shape\u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fAbnormal ear function\u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fEyes with different colors\u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fNotable facial features that are not on the other family members\u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fBrittle or sparse hair\u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fToo much body hair\u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fPatches with white hairs\u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fAn abnormally sized tongue\u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fMisshapen teeth\u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fToo many teeth\u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fAbnormally tall or short stature\u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fWebbed fingers and toes\u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fSkin that&#8217;s too thick\u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fSuspicious birthmarks\u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fAbnormal sweating patterns \u200f<\/span><\/li>\n<li><span style=\"font-weight: 400\"> \u200fExcessive body odor<br \/>\n<\/span><span style=\"font-weight: 400\"><img decoding=\"async\" class=\"size-full wp-image-1737 aligncenter\" src=\"https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fWhat-Are-the-Physical-Symptoms-of-Genetic-Disorders\u200f.jpg\" alt=\"Two Funny Beautiful Sisters With Genetic Disorders Having Fun Near the Blackboard\" width=\"1254\" height=\"836\" srcset=\"https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fWhat-Are-the-Physical-Symptoms-of-Genetic-Disorders\u200f-200x133.jpg 200w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fWhat-Are-the-Physical-Symptoms-of-Genetic-Disorders\u200f-300x200.jpg 300w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fWhat-Are-the-Physical-Symptoms-of-Genetic-Disorders\u200f-400x267.jpg 400w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fWhat-Are-the-Physical-Symptoms-of-Genetic-Disorders\u200f-600x400.jpg 600w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fWhat-Are-the-Physical-Symptoms-of-Genetic-Disorders\u200f-768x512.jpg 768w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fWhat-Are-the-Physical-Symptoms-of-Genetic-Disorders\u200f-800x533.jpg 800w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fWhat-Are-the-Physical-Symptoms-of-Genetic-Disorders\u200f-1024x683.jpg 1024w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fWhat-Are-the-Physical-Symptoms-of-Genetic-Disorders\u200f-1200x800.jpg 1200w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fWhat-Are-the-Physical-Symptoms-of-Genetic-Disorders\u200f.jpg 1254w\" sizes=\"(max-width: 1254px) 100vw, 1254px\" \/>\u200f<\/span><\/li>\n<\/ul>\n<h2><span style=\"font-weight: 400\">\u200f<\/span><b>Red Flags for Genetic Disease\u200f<\/b><\/h2>\n<p><span style=\"font-weight: 400\">\u200fMany factors can make doctors list a genetic condition on a differential diagnosis list. The most common reason for suspecting a genetic disorder would be its occurrence among family members.\u200f<\/span><\/p>\n<p><span style=\"font-weight: 400\">\u200fAs part of genetic testing in children, a doctor can discover incidences of genetic disease within a family&#8217;s history. If that condition has occurred in more than one family member and there have been several miscarriages, stillbirths, and childhood deaths, they will strongly suspect a genetic condition. \u200f<\/span><\/p>\n<p><span style=\"font-weight: 400\">\u200fA genetic specialist might also suspect genetic conditions if there is a family history of more than two adults with heart disease, cancer, or dementia. Apart from that, other conditions are suggestive of genetic conditions. These include developmental delays, congenital abnormalities, and abnormalities of the heart. \u200f<\/span><\/p>\n<p><span style=\"font-weight: 400\">\u200fHowever, spontaneous mutations and exposure to teratogens can cause similar symptoms. While most of the conditions can result from other factors, a genetic condition must be on the lineup of differential diagnosis once the symptoms are seens. \u200f<\/span><\/p>\n<p><span style=\"font-weight: 400\">\u200fA lot of genetic conditions typically manifest during childhood. However, it is not uncommon to find some adolescents or adults. Some conditions can remain undetected for many years until something triggers their onset. The changes that happen during puberty can cause a genetic condition to manifest. In such instances, the genetic specialist will require a detailed family history and thorough physical examination to investigate and pinpoint the condition.\u200f<\/span><\/p>\n<h2><span style=\"font-weight: 400\">\u200f<\/span><b>Genetic Consultation as Part of Diagnosing Childhood Genetic Diseases<\/b><span style=\"font-weight: 400\">\u200f<\/span><\/h2>\n<p><span style=\"font-weight: 400\">\u200fA genetic consultation provides information and support to individuals who might be at risk for genetic conditions. During genetic testing in children, a genetic specialist will meet with a family or the patient to discuss genetic disease risks and examine, confirm, or rule out genetic conditions. \u200f<\/span><\/p>\n<p><span style=\"font-weight: 400\">\u200fGenetic specialists include medical geneticists and genetic counselors. A genetic center or a hospital will typically carry out these consultations. Sometimes, your doctor could carry out the consultations over the phone. During the consultation, you can ask questions like, &#8216;how can genetics help to predict diseases?\u2019 The consultant will provide answers to all your questions to the best of their ability. \u200f<\/span><\/p>\n<h2><span style=\"font-weight: 400\">\u200f<\/span><b>Testing and Diagnosis for Chromosome Disorders in Children\u200f<\/b><\/h2>\n<p><span style=\"font-weight: 400\">\u200fGenetic testing in children is an important step in identifying genetic conditions. It also answers the question, &#8216;how can genetics help to predict diseases?\u2019 Testing can be carried out in pregnant women, newborns, and children of all ages. In some instances, a doctor can identify a genetic condition during a physical examination. However, in most cases, specific tests must be carried out to diagnose childhood genetic diseases. \u200f<\/span><\/p>\n<p><span style=\"font-weight: 400\">\u200fGenetic tests include examining chromosomes or running blood tests to check for certain enzymes that can indicate a genetic disorder. The process of analyzing enzymes is known as biochemical, genetic testing.\u200f<\/span><\/p>\n<p><span style=\"font-weight: 400\">\u200fThe first step of testing for chromosome disorders in children is to review the family&#8217;s medical history. If the test is for a pregnant mother, the genetic specialist might also review the pregnancy history and perform tests. Some of the tests conducted include X-rays, MRIs, and genetic tests (usually blood tests.) The doctor may also refer the child to an alternate specialty section within the hospital.\u200f<\/span><\/p>\n<h2><span style=\"font-weight: 400\">\u200f<\/span><b>Categories of Genetic Tests\u200f<\/b><\/h2>\n<h3><b>Predictive Genetic Testing\u200f<\/b><\/h3>\n<p><span style=\"font-weight: 400\">\u200fThese are tests that analyze an individual&#8217;s risk of developing a genetic condition. They might or not have a family history of genetic conditions. Some of the diseases that doctors screen for include certain kinds of cancer and heart disease.\u200f<\/span><\/p>\n<h3><b>Presymptomatic Genetic Testing\u200f<\/b><\/h3>\n<p><span style=\"font-weight: 400\">Presymptomatic Genetic Testing<\/span><b>\u200f<\/b><span style=\"font-weight: 400\"> studies the chances that a patient will get a genetic condition. Doctors do this by means of looking into the family history. However, this type of test occurs when the patient does not have any currently symptoms.\u200f<\/span><\/p>\n<h3><b>Carrier Testing\u200f<\/b><\/h3>\n<p><span style=\"font-weight: 400\">Carrier testing is useful for telling whether an individual carries a copy of a gene associated with a particular genetic disorder. There are some diseases known as &#8220;autosomal recessive.&#8221; An individual must inherit two copies of the defective gene for the disease to occur.\u200f<\/span><\/p>\n<p><span style=\"font-weight: 400\">\u200fDoctors administer carrier testing to ensure that a couple doesn&#8217;t carry the same autosomal recessive gene. If they both do, there are one in four chances that their child will get the genetic condition. \u200f<\/span><\/p>\n<h3><span style=\"font-weight: 400\">\u200f<\/span><b>Prenatal Diagnosis\u200f<\/b><\/h3>\n<p><span style=\"font-weight: 400\">\u200fGenetic specialists can also test for the presence of genetic conditions in a developing fetus. For this, they use blood tests, ultrasound, amniocentesis, and chorionic villus sampling.\u200f<\/span><\/p>\n<h3><span style=\"font-weight: 400\">\u200f<\/span><b>Newborn Screening\u200f<\/b><\/h3>\n<p><span style=\"font-weight: 400\">\u200fSome genetic predispositions can be diagnosed and treated early in life. Parents may request that their children be tested as soon as they are born to ensure they don&#8217;t have these conditions. \u200f<\/span><\/p>\n<h2><span style=\"font-weight: 400\">\u200f<\/span><b>Types of Tests for Childhood Genetic Diseases<\/b><\/h2>\n<p><b><img decoding=\"async\" class=\"size-full wp-image-1738 aligncenter\" src=\"https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fTypes-of-Tests-for-Childhood-Genetic-Diseases\u200f.jpg\" alt=\"Genetic Engineering Concept. Medical Science. Scientific Laboratory.\" width=\"1365\" height=\"768\" srcset=\"https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fTypes-of-Tests-for-Childhood-Genetic-Diseases\u200f-200x113.jpg 200w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fTypes-of-Tests-for-Childhood-Genetic-Diseases\u200f-300x169.jpg 300w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fTypes-of-Tests-for-Childhood-Genetic-Diseases\u200f-400x225.jpg 400w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fTypes-of-Tests-for-Childhood-Genetic-Diseases\u200f-600x338.jpg 600w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fTypes-of-Tests-for-Childhood-Genetic-Diseases\u200f-768x432.jpg 768w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fTypes-of-Tests-for-Childhood-Genetic-Diseases\u200f-800x450.jpg 800w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fTypes-of-Tests-for-Childhood-Genetic-Diseases\u200f-1024x576.jpg 1024w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fTypes-of-Tests-for-Childhood-Genetic-Diseases\u200f-1200x675.jpg 1200w, https:\/\/www.toplinemd.com\/pemc-florida\/wp-content\/uploads\/sites\/111\/2021\/06\/\u200fTypes-of-Tests-for-Childhood-Genetic-Diseases\u200f.jpg 1365w\" sizes=\"(max-width: 1365px) 100vw, 1365px\" \/><\/b><span style=\"font-weight: 400\">\u200fDoctors use several methods to screen for genetic conditions in children. These tests can also identify genetic predispositions. The type of test that the doctors use depends on the type of genetic condition they are checking for. There are mainly three types of tests used. These include cytogenetic and biochemical tests for chromosome disorders. \u200f<\/span><\/p>\n<h3><span style=\"font-weight: 400\">\u200f<\/span><b>Cytogenetic Testing<\/b><span style=\"font-weight: 400\">\u200f<\/span><\/h3>\n<p><span style=\"font-weight: 400\">\u200fWith these tests, the genetic specialists will analyze whole chromosomes and check them for abnormalities. For this, they use white blood cells because they are easy to access. In some instances, they can also use amniotic fluid.\u200f<\/span><\/p>\n<h3><a href=\"https:\/\/www.uwyo.edu\/molb2210_lab\/info\/biochemical_tests.htm\" target=\"_blank\" rel=\"nofollow noopener\"><span style=\"font-weight: 400\">\u200f<\/span><b>Biochemical Testing\u200f<\/b><\/a><\/h3>\n<p><span style=\"font-weight: 400\">\u200fThere are a lot of biochemical reactions that take place in the cells each minute. A group of proteins known as enzymes facilitate these reactions. Other proteins that are essential for biochemical reactions include transporters and structural proteins. A genetic condition can cause one or more of these proteins not to function as they should. A biochemist will run \u200f<\/span><a href=\"https:\/\/www.cdc.gov\/genomics\/gtesting\/genetic_testing.htm\" target=\"_blank\" rel=\"nofollow noopener\"><span style=\"font-weight: 400\">\u200ftests\u200f <\/span><\/a><span style=\"font-weight: 400\">\u200fto investigate the levels of these proteins in the blood and analyze their structure. \u200f<\/span><\/p>\n<p><span style=\"font-weight: 400\">\u200fGenetic conditions are quite common in children, and they will continue into adulthood.\u00a0<\/span><\/p>\n<p><span style=\"font-weight: 400\">Do you suspect that your child has a genetic condition? Even if they are not showing signs, you might still want to get them screened for a genetic condition, especially if there are incidences in your family. \u200f<\/span><\/p>\n<p><span style=\"font-weight: 400\">\u200fDon\u2019t hesitate to get in touch with us for advice and genetic testing. After all, we are experts, and we have helped numerous patients for many years. Also, feel free to share this article on social media to increase awareness of genetic conditions. \u200f<\/span><\/p>\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2791077\/\" target=\"_blank\" rel=\"nofollow noopener\"><span style=\"font-weight: 400\">\u200fhttps:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2791077\/\u200f<\/span><\/a><\/p>\n<p><a href=\"https:\/\/www.cdc.gov\/genomics\/gtesting\/genetic_testing.htm\" target=\"_blank\" rel=\"nofollow noopener\"><span style=\"font-weight: 400\">\u200fhttps:\/\/www.cdc.gov\/genomics\/gtesting\/genetic_testing.htm\u200f<\/span><\/a><\/p>\n<p><a href=\"https:\/\/medlineplus.gov\/genetics\/understanding\/testing\/uses\/\" target=\"_blank\" rel=\"nofollow noopener\"><span style=\"font-weight: 400\">\u200fhttps:\/\/medlineplus.gov\/genetics\/understanding\/testing\/uses\/\u200f<\/span><\/a><\/p>\n<p><a href=\"https:\/\/medlineplus.gov\/genetics\/understanding\/testing\/benefits\/\" target=\"_blank\" rel=\"nofollow noopener\"><span style=\"font-weight: 400\">\u200fhttps:\/\/medlineplus.gov\/genetics\/understanding\/testing\/benefits\/\u200f<\/span><\/a><\/p>\n<p><a href=\"https:\/\/www.genome.gov\/FAQ\/Genetic-Testing\" target=\"_blank\" rel=\"nofollow noopener\"><span style=\"font-weight: 400\">\u200fhttps:\/\/www.genome.gov\/FAQ\/Genetic-Testing\u200f<\/span><\/a><\/p>\n<p><a href=\"https:\/\/www.genome.gov\/10001733\/genetic-testing-report\" target=\"_blank\" rel=\"nofollow noopener\"><span style=\"font-weight: 400\">\u200fhttps:\/\/www.genome.gov\/10001733\/genetic-testing-report<\/span><\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Currently, more than 1200 genetic disorders are known to exist. With proper testing, doctors can identify most of these conditions in children. A\u200f \u200fgenetic specialist can use several methods to diagnose chromosome disorders. These include biochemical testing, karyotyping, preimplantation genetic diagnosis, and neonatal genetic screening.\u200f \u200fHow Can Genetics Help to Predict Diseases?\u200f \u200fOur genetic makeup<\/p>\n","protected":false},"author":3,"featured_media":1736,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":"","_links_to":"","_links_to_target":""},"categories":[96],"tags":[100,99,101,102,97,98],"class_list":["post-1735","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetic-conditions","tag-childhood-genetic-diseases","tag-chromosome-disorders","tag-genetic-predispositions","tag-genetic-specialist","tag-genetic-testing-in-children","tag-how-can-genetics-help-to-predict-diseases"],"aioseo_notices":[],"_links":{"self":[{"href":"https:\/\/www.toplinemd.com\/pemc-florida\/wp-json\/wp\/v2\/posts\/1735","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.toplinemd.com\/pemc-florida\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.toplinemd.com\/pemc-florida\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.toplinemd.com\/pemc-florida\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.toplinemd.com\/pemc-florida\/wp-json\/wp\/v2\/comments?post=1735"}],"version-history":[{"count":0,"href":"https:\/\/www.toplinemd.com\/pemc-florida\/wp-json\/wp\/v2\/posts\/1735\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.toplinemd.com\/pemc-florida\/wp-json\/wp\/v2\/media\/1736"}],"wp:attachment":[{"href":"https:\/\/www.toplinemd.com\/pemc-florida\/wp-json\/wp\/v2\/media?parent=1735"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.toplinemd.com\/pemc-florida\/wp-json\/wp\/v2\/categories?post=1735"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.toplinemd.com\/pemc-florida\/wp-json\/wp\/v2\/tags?post=1735"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}