{"id":4286,"date":"2021-12-08T09:58:00","date_gmt":"2021-12-08T06:58:00","guid":{"rendered":"https:\/\/f-genetics.com\/?post_type=test&#038;p=4286"},"modified":"2025-10-19T20:24:01","modified_gmt":"2025-10-19T17:24:01","slug":"carrier-seq","status":"publish","type":"test","link":"https:\/\/f-genetics.com\/en\/carrier-seq\/","title":{"rendered":"Carrier Seq"},"content":{"rendered":"<div class=\"wp-block-genetics-row-with-tabs test__row\"><div class=\"test__col\"><section class=\"test__tabs\"><h2>What are the risks of a couple passing on a genetic disease to their child?<\/h2><div class=\"inner\">\n<div class=\"wp-block-genetics-tabs c-tabs\"><div class=\"c-tabs__nav\"><div class=\"tabs-wrapper swiper-wrapper\"><div data-tab=\"1\" class=\"tab-link swiper-slide current\" tabindex=\"0\">Carrier<\/div><div data-tab=\"2\" class=\"tab-link swiper-slide\" tabindex=\"0\">Types and Prevalence\u00a0<\/div><div data-tab=\"3\" class=\"tab-link swiper-slide\" tabindex=\"0\">Prevention<\/div><\/div><\/div><div class=\"tabs-arrow arrow-prev\">\u2190<\/div><div class=\"tabs-arrow arrow-next\">\u2192<\/div><div class=\"c-tabs__contents\">\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-1 current\">\n<p class=\"is-style-default has-20-font-size\">Approximately <strong>1 out of every 200<\/strong><sup>[1] <\/sup>couples in the general population is at risk of being carriers of an inherited genetic disease<sup>[2]<\/sup>.<\/p>\n\n\n\n<p><strong>Carrier<\/strong>&nbsp;is a person who has a genetic variation in their DNA associated with the disease and might pass it on to the next generation.<\/p>\n\n\n\n<p><strong>An inherited genetic disease<\/strong>&nbsp;is a pathological condition of the body caused by an abnormality in a certain gene. The result of the abnormality in the DNA can range from asymptomatic to serious life-threatening health issues.<\/p>\n\n\n\n<div style=\"height:8px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div class=\"row\">\n<div class=\"col col-4\"><p><span class=\"factoid\"><span>1 \u0438\u0437 200<\/span>The incidence of hereditary diseases in newborns is 1 in 200 <sup>[4]<\/sup>.<\/span><\/p>\n\n\n<p><span class=\"factoid\"><span>6000<\/span>hereditary diseases have been identified to date <sup>[3]<\/sup>.<\/span><\/p>\n<\/div>\n\n\n\n<div class=\"col col-6\">\n<p class=\"is-style-purple\">With a seemingly low incidence of genetic diseases, an average incidence of carriage of altered genes in healthy population is <strong class=\"nobr\">1 per 20-50 people<\/strong>.<\/p>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:8px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"is-style-default\">All inherited diseases are caused by changes in a specific gene and are known as monogenic or Mendelian disorders.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-2\">\n<div class=\"row\">\n<div class=\"col col-6\">\n<h3 class=\"wp-block-heading\"><strong>Types and Prevalence:<\/strong> <\/h3>\n\n\n\n<ul class=\"wp-block-genetics-list genetics-list has-16-font-size\">\n<li>fermentopathies;<\/li>\n\n\n\n<li>hearing and sight defects;<\/li>\n\n\n\n<li>skeletal dysplasias;<\/li>\n\n\n\n<li>various forms of mental retardation;<\/li>\n\n\n\n<li>lesions of the nervous system, endocrine system, connective-tissue, etc.<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div class=\"col col-4\">\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq1.svg\"><img loading=\"lazy\" decoding=\"async\" width=\"344\" height=\"292\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq1.svg\" alt=\"\" class=\"wp-image-5299\"\/><\/a><figcaption> Worldwide Prevalence <\/figcaption><\/figure>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-3\">\n<p class=\"is-style-default\">With the development of molecular genetic technology, couples planning to have children can learn more about their future family's health than ever before.<\/p>\n\n\n\n<p class=\"is-style-default\">In many cases, parents are unaware that they are carriers, have no family history or symptoms of the disease.<\/p>\n\n\n\n<p class=\"is-style-yellow\"><strong>Carrier Seq<\/strong>&nbsp;is an important tool to help parents-to-be determine the risk of having a child with an inherited disease.<\/p>\n<\/div>\n<\/div><\/div>\n<\/div><\/section><\/div><\/div>\n\n\n\n<div class=\"wp-block-genetics-row-with-tabs test__row\"><div class=\"test__col\"><section class=\"test__tabs\"><h2>How are genetic diseases inherited?<\/h2><div class=\"inner\">\n<div class=\"wp-block-genetics-tabs c-tabs\"><div class=\"c-tabs__nav\"><div class=\"tabs-wrapper swiper-wrapper\"><div data-tab=\"1\" class=\"tab-link swiper-slide current\" tabindex=\"0\">What you need to know<\/div><div data-tab=\"2\" class=\"tab-link swiper-slide\" tabindex=\"0\">Patterns of inheritance<\/div><div data-tab=\"3\" class=\"tab-link swiper-slide\" tabindex=\"0\">Types of inheritance<\/div><div data-tab=\"4\" class=\"tab-link swiper-slide\" tabindex=\"0\">Parents<\/div><\/div><\/div><div class=\"tabs-arrow arrow-prev\">\u2190<\/div><div class=\"tabs-arrow arrow-next\">\u2192<\/div><div class=\"c-tabs__contents\">\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-1 current\">\n<p class=\"is-style-purple\">Most families that have a child with an inherited disease usually have <strong>no family history of that disease<\/strong> and&nbsp;<strong>no awareness of the increased<\/strong> risks of having a child with a genetic abnormality.<\/p>\n\n\n\n<p class=\"is-style-default\">Each person is a carrier of a large number of gene variants, some of which are pathogenic. Thus, if both spouses are carriers of a pathological variant in the same gene, there is a high probability of a child being born with an inherited disease.<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div class=\"row\">\n<div class=\"col col-aside\">\n<p class=\"has-20-font-size\"><span class=\"has-color has-nmb-400-color\">Example<\/span><\/p>\n<\/div>\n\n\n\n<div class=\"col col-main\">\n<p class=\"has-14-font-size\">When both partners are carriers of abnormal variations in a gene associated with the development of cystic fibrosis, the probabilities of passing the gene are: <\/p>\n\n\n\n<div class=\"row\">\n<div class=\"col col-3\"><p><span class=\"factoid\"><span>25%<\/span>the probability of a child having the disease<\/span><\/p>\n<\/div>\n\n\n\n<div class=\"col col-3\"><p><span class=\"factoid\"><span>50%<\/span>the probability of a child being a carrier of a pathogenic variant in the cystic fibrosis gene<\/span><\/p>\n<\/div>\n\n\n\n<div class=\"col col-3\"><p><span class=\"factoid\"><span>25%<\/span>probability of a child inheriting two healthy genetic copies and not being a carrier<\/span><\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-2\">\n<p class=\"is-style-default\"><strong>Autosomal recessive genetic disorder<\/strong> occurs when both partners are carriers of a pathological copy of a certain gene. This means that for the clinical manifestation of the disease, the child must inherit two abnormal copies of the same gene (one altered copy from each parent).<\/p>\n\n\n\n<p class=\"is-style-default\">If both parents are carriers of an altered copy of the same gene, they can pass  to their child both the normal copy and the \"defective\" copy.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-3\">\n<p class=\"is-style-default has-20-font-size\">There are <strong>two main types of inheritance<\/strong>that can lead to a healthy couple having a child with a genetic disease:<\/p>\n\n\n\n<div style=\"height:8px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"is-style-20-b wp-block-heading\"><strong>Autosomal recessive type<\/strong><\/h3>\n\n\n\n<div class=\"row\">\n<div class=\"col col-5\">\n<p class=\"is-style-default\">Autosomal means that the defective gene is located on any of the chromosomes other than the sex chromosomes (X or Y).<\/p>\n\n\n\n<p class=\"is-style-default\">In this type of inheritance, each parent has <strong>1 \"abnormal copy of the gene\" and 1 normal\/functional copy of the gene<\/strong>, so the disease does not  manifest, and the person is reffered to as a \"healthy carrier\".<\/p>\n<\/div>\n\n\n\n<div class=\"col col-5\">\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq6.svg\"><img loading=\"lazy\" decoding=\"async\" width=\"900\" height=\"632\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq6.svg\" alt=\"\" class=\"wp-image-5304\"\/><\/a><\/figure>\n<\/div>\n<\/div>\n\n\n\n<p class=\"is-style-default\">The disease develops when each of the carrier parents passes a \"pathological copy of the gene\" to their child.<\/p>\n\n\n\n<p class=\"is-style-default\">When two healthy carriers have a child, <strong>the risk of that child being born sick is 25%.<\/strong><\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p><span class=\"has-color has-nmb-400-color\">Examples of diseases:<\/span><\/p>\n\n\n\n<div class=\"row\">\n<div class=\"col col-5\">\n<ol class=\"wp-block-genetics-list genetics-list has-14-font-size is-style-arrows\">\n<li>hereditary metabolic diseases (cystic fibrosis, phenylketonuria, adrenogenital syndrome, galactosemia, congenital hypothyroidism)<\/li>\n<\/ol>\n\n\n\n<p><\/p>\n\n\n\n<p><\/p>\n<\/div>\n\n\n\n<div class=\"col col-5\">\n<ol class=\"wp-block-genetics-list genetics-list has-14-font-size is-style-arrows\">\n<li><meta charset=\"utf-8\">spinal muscular atrophy<\/li>\n\n\n\n<li>sensorineural hearing loss<\/li>\n<\/ol>\n<\/div>\n<\/div>\n\n\n\n<div style=\"height:8px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"is-style-20-b wp-block-heading\"><strong>X-linked recessive type of inheritance<\/strong><\/h3>\n\n\n\n<div class=\"row\">\n<div class=\"col col-5\">\n<p class=\"is-style-default\">Sex-linked diseases are associated with the presence of defective genes on the sex chromosomes (X or Y).<\/p>\n\n\n\n<p class=\"is-style-default\">The disease develops if the associated <strong>gene is found on the X chromosome<\/strong>. And, since boys have only one X chromosome, one altered copy of the gene is enough for them to develop the disease.<\/p>\n<\/div>\n\n\n\n<div class=\"col col-5\">\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq7.svg\"><img loading=\"lazy\" decoding=\"async\" width=\"900\" height=\"654\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq7.svg\" alt=\"\" class=\"wp-image-5305\"\/><\/a><\/figure>\n<\/div>\n<\/div>\n\n\n\n<p class=\"is-style-default\">Therefore, if the carrier mother passed on a \"dysfunctional copy of the gene\" to her son, he will develop the disease. Sons never inherit their father's disease because fathers pass on <span class=\"nobr\">their Y chromosome<\/span>.<\/p>\n\n\n\n<p class=\"is-style-default\">If a woman is a carrier of a pathological copy of a gene associated with the development of X-linked recessive disease, she will pass on the altered gene to 50% of her children, regardless of gender.<\/p>\n\n\n\n<p class=\"is-style-default\"><strong>In this case, the risk of giving birth to a son with a disease is 25%, while both daughters are healthy, and one of them is a healthy carrier of the abnormal copy of the gene.<\/strong><\/p>\n\n\n\n<p class=\"is-style-default\">If the father is sick, all of his daughters are healthy, but are healthy carriers of the pathological copy of the gene.<\/p>\n\n\n\n<div style=\"height:10px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"is-style-default\"><em><span class=\"has-color has-nmb-400-color\">Examples of diseases:<\/span><\/em><\/p>\n\n\n\n<div class=\"row\">\n<div class=\"col col-5\">\n<ol class=\"wp-block-genetics-list genetics-list has-14-font-size is-style-arrows\">\n<li>X-linked adrenoleukodystrophy<\/li>\n\n\n\n<li><meta charset=\"utf-8\">hemophilia A, B<\/li>\n<\/ol>\n<\/div>\n\n\n\n<div class=\"col col-5\">\n<ol class=\"wp-block-genetics-list genetics-list has-14-font-size is-style-arrows\">\n<li><meta charset=\"utf-8\">Duchenne muscular dystrophy<\/li>\n<\/ol>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-4\">\n<p class=\"is-style-default\">Couples who are carriers of recessive diseases in most cases do not have any clinical manifestations, and, unfortunately, often find out about their genetic status only after the birth of a child that has inherited abnormal copies of the gene and shows clinical manifestations of a certain disease.<\/p>\n\n\n\n<p class=\"is-style-purple\">To prevent a family from having a child with an inherited genetic disease, it is essential <strong>to test for the carrier<\/strong>\u00a0of at least the most common gene variations during the pregnancy planning stage.<\/p>\n<\/div>\n<\/div><\/div>\n<\/div><\/section><\/div><\/div>\n\n\n\n<div class=\"wp-block-genetics-row-with-tabs test__row\"><div class=\"test__col\"><section class=\"test__tabs\"><h2>Living with a genetic disease<\/h2><div class=\"inner\">\n<div class=\"wp-block-genetics-tabs c-tabs\"><div class=\"c-tabs__nav\"><div class=\"tabs-wrapper swiper-wrapper\"><div data-tab=\"1\" class=\"tab-link swiper-slide current\" tabindex=\"0\">Life expectancy<\/div><div data-tab=\"2\" class=\"tab-link swiper-slide\" tabindex=\"0\">Treatment options<\/div><\/div><\/div><div class=\"tabs-arrow arrow-prev\">\u2190<\/div><div class=\"tabs-arrow arrow-next\">\u2192<\/div><div class=\"c-tabs__contents\">\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-1 current\">\n<div class=\"row\">\n<div class=\"col col-5\">\n<p class=\"is-style-purple\">Common to most hereditary genetic diseases is a significant reduction in the life expectancy of patients.<\/p>\n\n\n\n<p>The vast majority of hereditary diseases are known to most often begin to manifest at a young age. The first symptoms of some diseases do not appear immediately, but a year or even several years into the normal development of the child.<\/p>\n\n\n<p><span class=\"factoid\"><span>About 30%<\/span>of children do not live to the age of 5 <sup>[5]<\/sup><\/span><\/p>\n<\/div>\n\n\n\n<div class=\"col col-5\">\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq2.svg\"><img loading=\"lazy\" decoding=\"async\" width=\"710\" height=\"735\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq2.svg\" alt=\"\" class=\"wp-image-5309\"\/><\/a><figcaption>Life expectancy for the most common hereditary diseases in the Russian Federation<\/figcaption><\/figure>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-2\">\n<p class=\"is-style-default has-20-font-size\">Genetic diseases are <strong>largely untreatable<\/strong>, with only symptomatic therapy aimed at addressing clinical manifestations.<\/p>\n\n\n\n<p class=\"is-style-default\">For some diseases there now exist fundamentally new methods of treatment based on genotherapy. But the cost of treatment for patients with hereditary diseases is very high.<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div class=\"row\">\n<div class=\"col col-aside\">\n<p class=\"has-20-font-size\"><span class=\"has-color has-nmb-400-color\">Example<\/span><\/p>\n<\/div>\n\n\n\n<div class=\"col col-main\">\n<p class=\"has-14-font-size\">Spinal muscular atrophy is a severe hereditary neuromuscular disease that progresses very quickly: patients first lose the ability to walk, then to eat and even breathe. Half of children with SMA do not live to be two years old. For a long time, SMA was considered incurable and the diagnosis was a death sentence. But now a medication called Zolgensma has been developed, an ampule of which costs about 154 million rubles.<\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div><\/div>\n<\/div><\/section><\/div><\/div>\n\n\n\n<div class=\"wp-block-genetics-row-with-tabs test__row\"><div class=\"test__col\"><section class=\"test__tabs\"><h2>\u0421\u043a\u0440\u0438\u043d\u0438\u043d\u0433 \u043d\u0430 \u043d\u043e\u0441\u0438\u0442\u0435\u043b\u044c\u0441\u0442\u0432\u043e \u0433\u0435\u043d\u0435\u0442\u0438\u0447\u0435\u0441\u043a\u0438\u0445 \u0438\u0437\u043c\u0435\u043d\u0435\u043d\u0438\u0439<\/h2><div class=\"inner\">\n<div class=\"wp-block-genetics-tabs c-tabs\"><div class=\"c-tabs__nav\"><div class=\"tabs-wrapper swiper-wrapper\"><div data-tab=\"1\" class=\"tab-link swiper-slide current\" tabindex=\"0\">What is it?<\/div><div data-tab=\"2\" class=\"tab-link swiper-slide\" tabindex=\"0\">Advantages<\/div><div data-tab=\"3\" class=\"tab-link swiper-slide\" tabindex=\"0\">F-Genetics platform<\/div><div data-tab=\"4\" class=\"tab-link swiper-slide\" tabindex=\"0\">Methodology<\/div><\/div><\/div><div class=\"tabs-arrow arrow-prev\">\u2190<\/div><div class=\"tabs-arrow arrow-next\">\u2192<\/div><div class=\"c-tabs__contents\">\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-1 current\">\n<div class=\"row\">\n<div class=\"col col-6\">\n<p><strong>Carrier screening<\/strong>&nbsp;is genetic testing designed to detect an abnormal copy of an altered gene in a person that leads to the development of a genetic disease. <\/p>\n\n\n\n<p><strong>Indications<\/strong>: healthy couples who are planning a pregnancy and want to know their carrier status to assess the likelihood of having a child with a genetic disease. <\/p>\n<\/div>\n\n\n\n<div class=\"col col-4\">\n<p class=\"is-style-green\">Everyone is eligible for testing, regardless of the presence or absence of family history of a particular genetic disease.  <\/p>\n<\/div>\n<\/div>\n\n\n<p><strong>If spouses are found to be carriers<\/strong> of abnormal changes in the same gene responsible for the development of a genetic disease, they are referred for\u00a0<span class=\"tooltip\" data-tooltip-content=\"#test_tooltip1\">genetic counseling<\/span>.<\/p>\n\n\n\n<div class=\"row\">\n<div class=\"col col-5\">\n<p><strong>The doctor can<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-genetics-list genetics-list has-16-font-size\">\n<li>determine the type of inheritance of the disease,<\/li>\n\n\n\n<li>explain the significance of received information for the development and health of the future child<\/li>\n\n\n\n<li>help choose the most effective way to prevent the detected disease and give birth to a healthy child.<\/li>\n<\/ul>\n<\/div>\n\n\n\n<div class=\"col col-5\">\n<p class=\"is-style-gray has-14-font-size\">It is possible to use assisted reproductive technologies with preimplantation genetic diagnosis (PGD) (PGT-M) to select embryos that do not carry abnormal gene copies.<\/p>\n\n\n\n<p class=\"has-14-font-size\">Carriers of hereditary diseases who have a high risk of having a sick child can use alternatives, such as sperm or egg donors.<\/p>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-2\">\n<p>This test evaluates the most frequent gene variations associated with genetic diseases in a single procedure. It allows to significantly reduce the risk of giving birth to children with hereditary pathologies.<\/p>\n\n\n\n<p class=\"is-style-purple has-20-font-size\">Carrier testing is a once in a lifetime procedure for you and your partner.<\/p>\n\n\n\n<p>However, if you are identified as a carrier of certain abnormal genes and there is a new partner, they are advised to get tested, but only for the genes in which you have been found to have changes.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-3\">\n<p>Recently, more and more data indicate the high efficiency of next generation sequencing (NGS) methods for identifying the genetic cause of certain groups of inherited diseases.<\/p>\n\n\n\n<p>In our laboratory, the test is performed on a certified and registered F-Genetics platform.<\/p>\n\n\n\n<p class=\"is-style-purple has-20-font-size\">First Genetics' laboratory test allows for simultaneous disease risk assessment <strong>for 417 syndromes<\/strong>.<\/p>\n<\/div>\n\n\n\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-4\">\n<p class=\"has-20-font-size\"><strong>Basic steps of the test<\/strong><\/p>\n\n\n\n<dl class=\"wp-block-genetics-instruction test__instruction\">\n<div class=\"wp-block-genetics-instruction-item step\"><div class=\"icon\"><img decoding=\"async\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/step-1.svg\" alt=\"\"\/><\/div><div class=\"text\"><div class=\"heading\">Extraction of genomic DNA from blood samples<\/div>\n<div class=\"row\">\n<div class=\"col col-6\">\n<p>Carrier screening involves analyzing the DNA we extract from the blood. Each sample of extracted DNA undergoes internal quality control.<\/p>\n<\/div>\n\n\n\n<div class=\"col col-4\">\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/carrier-seq-step-1.svg\"><img loading=\"lazy\" decoding=\"async\" width=\"450\" height=\"220\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/carrier-seq-step-1.svg\" alt=\"\" class=\"wp-image-5556\"\/><\/a><\/figure>\n<\/div>\n<\/div>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-genetics-instruction-item step\"><div class=\"icon\"><img decoding=\"async\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/step-2.svg\" alt=\"\"\/><\/div><div class=\"text\"><div class=\"heading\">Amplification\u00a0<\/div>\n<div class=\"row\">\n<div class=\"col col-6\">\n<p>This step involves the amplification (accumulation) of strictly defined DNA regions considered most important for disease recognition by polymerase chain reaction (PCR). The DNA fragments synthesized in this reaction are called amplicons.<\/p>\n<\/div>\n\n\n\n<div class=\"col col-4\">\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq3.svg\"><img loading=\"lazy\" decoding=\"async\" width=\"450\" height=\"220\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq3.svg\" alt=\"\" class=\"wp-image-5555\"\/><\/a><\/figure>\n<\/div>\n<\/div>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-genetics-instruction-item step\"><div class=\"icon\"><img decoding=\"async\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/step-3.svg\" alt=\"\"\/><\/div><div class=\"text\"><div class=\"heading\"><strong>Ion Semiconductor Sequencing<\/strong><\/div>\n<div class=\"row\">\n<div class=\"col col-6\">\n<p>We then sequence each nucleotide in all PCR-derived and quality-controlled amplicons by next-generation sequencing (NGS).<\/p>\n\n\n\n<p>All amplicons are labeled with identical DNA adapters, which are special sequences required for simultaneous sequencing of many different DNA fragments.<\/p>\n<\/div>\n\n\n\n<div class=\"col col-4\">\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/carrier-seq-step-3.svg\"><img loading=\"lazy\" decoding=\"async\" width=\"450\" height=\"220\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/carrier-seq-step-3.svg\" alt=\"\" class=\"wp-image-5554\"\/><\/a><\/figure>\n<\/div>\n<\/div>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-genetics-instruction-item step\"><div class=\"icon\"><img decoding=\"async\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/step-4.svg\" alt=\"\"\/><\/div><div class=\"text\"><div class=\"heading\"><strong>Test result<\/strong><\/div>\n<div class=\"row\">\n<div class=\"col col-6\">\n<p>Special software and computer algorithms are used to detect changes in the DNA sequence. The data obtained are then interpreted by comparing the results with databases that list variants associated with genetic diseases.<\/p>\n<\/div>\n\n\n\n<div class=\"col col-4\">\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/carrier-seq-step-4.svg\"><img loading=\"lazy\" decoding=\"async\" width=\"450\" height=\"220\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/carrier-seq-step-4.svg\" alt=\"\" class=\"wp-image-5557\"\/><\/a><\/figure>\n<\/div>\n<\/div>\n<\/div><\/div>\n<\/dl>\n<\/div>\n<\/div><\/div>\n<\/div><\/section><\/div><\/div>\n\n\n\n<div class=\"wp-block-genetics-row-with-tabs test__row\"><div class=\"test__col\"><section class=\"test__tabs\"><h2>Additional Information<\/h2><div class=\"inner\">\n<div class=\"wp-block-genetics-tabs c-tabs\"><div class=\"c-tabs__nav\"><div class=\"tabs-wrapper swiper-wrapper\"><div data-tab=\"1\" class=\"tab-link swiper-slide current\" tabindex=\"0\">Biological factsheet<\/div><div data-tab=\"2\" class=\"tab-link swiper-slide\" tabindex=\"0\">Glossary<\/div><div data-tab=\"3\" class=\"tab-link swiper-slide\" tabindex=\"0\">Literature<\/div><\/div><\/div><div class=\"tabs-arrow arrow-prev\">\u2190<\/div><div class=\"tabs-arrow arrow-next\">\u2192<\/div><div class=\"c-tabs__contents\">\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-1 current\">\n<div class=\"row\">\n<div class=\"col col-6\">\n<p>Human genetic or hereditary material consists of a chemical called <strong>DNA<\/strong> (<strong>d<\/strong>eoxyribo<strong>n<\/strong>ucleic <strong>a<\/strong>cid). Each strand of DNA consists of four types of <strong>nucleotides<\/strong> (adenine, thymine, cytosine, and guanine). <\/p>\n\n\n\n<p>All human hereditary information (<strong>the genome<\/strong>) consists of three billion pairs of nucleotides. <strong>Genes<\/strong> are small pieces of DNA that contain all the information about how our body functions. Genes in the human body come in pairs. <\/p>\n<\/div>\n\n\n\n<div class=\"col col-4\">\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq4.svg\"><img loading=\"lazy\" decoding=\"async\" width=\"900\" height=\"452\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq4.svg\" alt=\"\" class=\"wp-image-5315\"\/><\/a><\/figure>\n<\/div>\n<\/div>\n\n\n\n<div class=\"row\">\n<div class=\"col col-6\">\n<p class=\"is-style-gray\">The human genome contains about 20000 active genes.<\/p>\n\n\n\n<p>The human genome is packaged in 23 pairs of <strong>chromosomes<\/strong>: 22 pairs of autosomal chromosomes and a pair of X and Y sex chromosomes (XX in women, XY in men). Thus, human somatic cells have 46 chromosomes, each containing hundreds of <strong>genes<\/strong>.<\/p>\n<\/div>\n\n\n\n<div class=\"col col-4\">\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/carrier-seq-info-2.svg\"><img loading=\"lazy\" decoding=\"async\" width=\"1050\" height=\"672\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/carrier-seq-info-2.svg\" alt=\"\" class=\"wp-image-5319\"\/><\/a><\/figure>\n<\/div>\n<\/div>\n\n\n\n<div class=\"row\">\n<div class=\"col col-6\">\n<p>The sperm and egg contain only half of the somatic cell chromosomes, that is, 23 chromosomes each. During fertilization, when the egg and sperm combine, the two sets of chromosomes form pairs. As a result, one half of the child's genetic material comes from the mother and the other half from the father.<\/p>\n\n\n\n<p><\/p>\n<\/div>\n\n\n\n<div class=\"col col-4\">\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq8.svg\"><img loading=\"lazy\" decoding=\"async\" width=\"900\" height=\"605\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq8.svg\" alt=\"\" class=\"wp-image-5318\"\/><\/a><\/figure>\n<\/div>\n<\/div>\n\n\n\n<div class=\"row\">\n<div class=\"col col-6\">\n<p class=\"is-style-gray\">Each person is a carrier of a number of gene changes.<\/p>\n\n\n\n<p>Changes in genes are commonly referred to as genetic variations. As a result of these rearrangements, sometimes a defective copy of a gene cannot perform its functions as intended.<\/p>\n<\/div>\n\n\n\n<div class=\"col col-4\">\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq5.svg\"><img loading=\"lazy\" decoding=\"async\" width=\"1100\" height=\"700\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/seq5.svg\" alt=\"\" class=\"wp-image-5317\"\/><\/a><\/figure>\n<\/div>\n<\/div>\n\n\n\n<p class=\"is-style-default\">Often a person who has just one copy of a defective gene is unaware of its presence because a second, normal copy of the gene compensates the function of the altered section of DNA. In the vast majority of cases, they will be a \"healthy carrier\". If abnormal gene copies are located in germ cells, they are passed on to offspring.<\/p>\n\n\n\n<div style=\"height:8px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div class=\"row\">\n<div class=\"col col-4\">\n<figure class=\"wp-block-image size-large\"><a href=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/carrier-seq-info-5.svg\"><img loading=\"lazy\" decoding=\"async\" width=\"900\" height=\"605\" src=\"https:\/\/f-genetics.com\/wp-content\/uploads\/2021\/12\/carrier-seq-info-5.svg\" alt=\"\" class=\"wp-image-5316\"\/><\/a><figcaption>Each carrier has the risk of passing on an abnormal copy of the gene to the next generation<\/figcaption><\/figure>\n<\/div>\n\n\n\n<div class=\"col col-6\">\n<p><strong>A carrier<\/strong>&nbsp;is a person who has one abnormal copy of a gene that doesn't work correctly, while the other copy is normal. The carrier may have no symptoms of the disease or show mild clinical symptoms.<\/p>\n\n\n\n<p class=\"is-style-default\">However, each carrier has the risk of passing on an abnormal copy of the gene to the next generation, and the child of a couple where both parents are carries a defective copy of the same gene may be born with an inherited disease.<\/p>\n<\/div>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-2\">\n<dl class=\"wp-block-genetics-glossary test__glossary\">\n<div class=\"wp-block-genetics-glossary-item\"><dt><strong>Carrier<\/strong><\/dt><dd>\n<p class=\"is-style-default\">A person without signs of the disease, but who has a risk of passing on an abnormal copy of the gene to the next generation.<\/p>\n<\/dd><\/div>\n\n\n\n<div class=\"wp-block-genetics-glossary-item\"><dt><strong>Carrier screening<\/strong><\/dt><dd>\n<p class=\"is-style-default\">A test to find out whether or not a healthy person is a carrier of a recessive genetic disease.<\/p>\n<\/dd><\/div>\n\n\n\n<div class=\"wp-block-genetics-glossary-item\"><dt><strong>DNA<\/strong><\/dt><dd>\n<p class=\"is-style-default\">Genetic material that is passed from parents to children. DNA is packaged in structures called chromosomes.<\/p>\n<\/dd><\/div>\n\n\n\n<div class=\"wp-block-genetics-glossary-item\"><dt><strong>Chromosomes<\/strong><\/dt><dd>\n<p class=\"is-style-default\">Structures inside each cell of an organism. Chromosomes contain genes.<\/p>\n<\/dd><\/div>\n\n\n\n<div class=\"wp-block-genetics-glossary-item\"><dt><strong>Gene<\/strong><\/dt><dd>\n<p class=\"is-style-default\">A piece of DNA that contains instructions for the formation of certain human characteristics and traits, as well as for the control of body processes. A gene is the basic unit of heredity and can be passed from parent to child.<\/p>\n<\/dd><\/div>\n\n\n\n<div class=\"wp-block-genetics-glossary-item\"><dt><strong>Somatic cells<\/strong><\/dt><dd>\n<p class=\"is-style-default\">The cells that make up the body (soma) of multicellular organisms and do not participate in sexual reproduction.<\/p>\n<\/dd><\/div>\n\n\n\n<div class=\"wp-block-genetics-glossary-item\"><dt><strong>Polymerase Chain Reaction (PCR)<\/strong><\/dt><dd>\n<p class=\"is-style-default\">An experimental molecular biology method that allows significant amplification of small concentrations of certain nucleic acid (NK) fragments in biological material.<\/p>\n<\/dd><\/div>\n\n\n\n<div class=\"wp-block-genetics-glossary-item\"><dt><strong>DNA library<\/strong><\/dt><dd>\n<p class=\"is-style-default\">A set of DNA fragments subjected to sequencing. These DNA fragments are labeled with identical DNA adapters, which are special sequences required for simultaneous sequencing of many different DNA fragments.<\/p>\n<\/dd><\/div>\n\n\n\n<div class=\"wp-block-genetics-glossary-item\"><dt><strong>Sequencing<\/strong><\/dt><dd>\n<p class=\"is-style-default\">Determination of the nucleotide sequence in DNA. Comparing the DNA sequence in a sample to a standard human sequence allows to determine if there is an abnormality in the sample.<\/p>\n<\/dd><\/div>\n\n\n\n<div class=\"wp-block-genetics-glossary-item\"><dt><strong>NGS<\/strong> (<strong>N<\/strong>ext-<strong>G<\/strong>eneration <strong>S<\/strong>equencing, high throughput sequencing)<\/dt><dd>\n<p class=\"is-style-default\">A sequencing technology in which the DNA sequence is simultaneously read for a large number of short segments. These segments are then assembled on a computer to create a complete picture. This technology makes it possible to examine not just a single segment of DNA, but large fragments or even the entire genome in a short period of time.<\/p>\n<\/dd><\/div>\n\n\n\n<div class=\"wp-block-genetics-glossary-item\"><dt><\/dt><dd><\/dd><\/div>\n<\/dl>\n<\/div>\n\n\n\n<div class=\"wp-block-genetics-tab tab-content genetics-tab-3\">\n<p class=\"is-style-default\">1. Xiao Q., Lauschke V. M. The prevalence, genetic complexity and&nbsp;population-specific founder effects of&nbsp;human autosomal recessive disorders \/\/ NPJ genomic medicine. \u2014 2021. \u2014 \u0422. 6. \u2014 \u2116. 1.\u2014 \u0421. 1-7  \u2014 URL: <a href=\"https:\/\/www.nature.com\/articles\/s41525-021-00203-x\">https:\/\/www.nature.com\/articles\/s41525-021-00203-x<\/a><\/p>\n\n\n\n<p class=\"is-style-default\">2. Ropers H. H. On the future of genetic risk assessment \/\/ Journal of community genetics.  \u2014  2012.  \u2014  \u0422.&nbsp;3.  \u2014  \u2116. 3.  \u2014  \u0421. 229-236<\/p>\n\n\n\n<p class=\"is-style-default\">3. Wakap S. N. et al. Estimating cumulative point prevalence of&nbsp;rare diseases: analysis of&nbsp;the&nbsp;Orphanet database \/\/ European Journal of&nbsp;Human Genetics.  \u2014  2020.  \u2014  \u0422. 28.  \u2014  \u2116. 2.  \u2014  \u0421. 165-173<\/p>\n\n\n\n<p class=\"is-style-default\">4. Sateesh M. K. Bioethics and biosafety.  \u2014  IK International Pvt Ltd, 2013<\/p>\n\n\n\n<p class=\"is-style-default\">5. Angelis A., Tordrup D., Kanavos P. Socio-economic burden of&nbsp;rare diseases: a&nbsp;systematic review of&nbsp;cost of&nbsp;illness evidence \/\/ Health Policy.  \u2014  2015.  \u2014  \u0422. 119.  \u2014 \u2116. 7.  \u2014 \u0421. 964-979<\/p>\n\n\n\n<p class=\"is-style-default\">6. Novikov P. V. Legal aspects of rare (orphan) diseases in Russia and in the world \/\/Medicine. - 2013. - T. 1. - \u2116. 4. - p. 53-73<\/p>\n<\/div>\n<\/div><\/div>\n<\/div><\/section><\/div><\/div>","protected":false},"template":"","class_list":["post-4286","test","type-test","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v23.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>\u0421\u043a\u0440\u0438\u043d\u0438\u043d\u0433 \u043d\u0430 \u043d\u043e\u0441\u0438\u0442\u0435\u043b\u044c\u0441\u0442\u0432\u043e - First Genetics<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/f-genetics.com\/en\/carrier-seq\/\" \/>\n<meta property=\"og:locale\" content=\"en_GB\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"\u0421\u043a\u0440\u0438\u043d\u0438\u043d\u0433 \u043d\u0430 \u043d\u043e\u0441\u0438\u0442\u0435\u043b\u044c\u0441\u0442\u0432\u043e - 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