[vc_row][vc_column][vc_column_text]The last few years has demonstrated continued rapid improvements in terms of the technology
\nenabling genetic testing, the number and types of genetic tests that are clinically and
\ncommercially-available, and the knowledge base used to interpret test results. This section is a
\nsummary update of what is relatively new in genetic testing that Dr. Boles believes may be of
\nhelp in children through young adults with neurodevelopmental (autism, ADHD, intellectual
\ndisability, complex epilepsy), functional (cyclic vomiting, migraine, other chronic pain disorders,
\ndysautonomia, depression, anxiety), and mitochondrial disorders (all of the above, plus more).
\nFor more details regarding what is genetic testing, what are the options and how to decide which
\ntests are appropriate test for each patient, see Genetic Testing FAQs.<\/p>\n
<\/p>\n
<\/p>\n
<\/p>\n
<\/p>\n
[\/vc_column_text][\/vc_column][\/vc_row][vc_row full_width=”0″ full_height=”0″ elevate=”elevate” particles=”0″][vc_column][vc_tta_tabs color=”sky” active_section=”1″ title=”What is new in testing strategies?”][vc_tta_section title=”Whole exome sequencing” tab_id=”1529698575666-55a73d4e-7045″][vc_column_text]Whole exome sequencing (WES) is replacing panels in most cases<\/p>\n
<\/p>\n
Genetic knowledge is increasing too fast for panels to stay relevant. As soon as a panel is ready
\nfor the market it is outdated. In addition, lower pricing has made WES (sequencing all genes)
\nvery competitive with panel testing. For more information, see the section entitled The different
\nlevels of genetic sequencing.[\/vc_column_text][\/vc_tta_section][vc_tta_section title=”Whole genome sequencing” tab_id=”1529698575689-0cd1b6dc-7b7d”][vc_column_text]Whole genome sequencing (WGS) has arrived in clinical testing<\/p>\n
<\/p>\n
Prices have come down so far that WGS (sequencing all of the DNA) is oftentimes less
\nexpensive than WES plus chromosomal microarray (CMA \u2013 detects larger mutation missed by
\nsequencing). CMA is often ordered in patients with many different conditions, especially with
\nneurodevelopmental disorders (e.g. autism, epilepsy) or birth defects. For more information on
\nthe types of patients for which CMA testing is recommended, see the section entitled
\nChromosomal microarray (CMA). For more information on WGS, see the section entitled The
\ndifferent levels of genetic sequencing.[\/vc_column_text][\/vc_tta_section][vc_tta_section title=”Sequencing of the parents and patient” tab_id=”1529698907914-0a9ca0af-cbe1″][vc_column_text]Sequencing of the parents and patient (triome) is more common<\/p>\n
<\/p>\n
Again, this change is driven by the reduction in prices. Triome has some significant advantages,
\nespecially the detection of new sequence variants (mutations absent in both parents). Triome
\nsequencing is often ordered in patients with many different conditions, especially with
\nneurodevelopmental disorders (e.g. autism, epilepsy) or birth defects. For more information on
\nthe types of patients for which CMA testing is recommended, see the section entitled Triome
\nversus singleton testing.[\/vc_column_text][\/vc_tta_section][vc_tta_section title=”Testing patients with an established diagnosis” tab_id=”1529698944281-19c9651d-767a”][vc_column_text]Perhaps the diagnosis is incomplete, or just plain wrong? Perhaps the diagnosis is correct, but
\nstandard treatments are inadequate, or even non-existent, and one is looking for potential
\ntreatable genetic factors? In these situations, and more, it can make sense to pursue genetic
\ntesting even it patients with a \u201cdiagnosis\u201d. For more information, see the section entitled Should
\ntesting be performed if the patient already has a diagnosis?[\/vc_column_text][\/vc_tta_section][\/vc_tta_tabs][\/vc_column][\/vc_row]<\/p>\n","protected":false},"excerpt":{"rendered":"
[vc_row][vc_column][vc_column_text]The last few years has demonstrated continued rapid improvements in terms of the technology enabling genetic testing, the number and types of genetic tests that are clinically and commercially-available, and the knowledge base used to interpret test results. This section is a summary update of what is relatively new in genetic testing that Dr. Boles […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-361","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/361","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages"}],"about":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=361"}],"version-history":[{"count":16,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/361\/revisions"}],"predecessor-version":[{"id":382,"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=\/wp\/v2\/pages\/361\/revisions\/382"}],"wp:attachment":[{"href":"http:\/\/molecularmitomd.com\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=361"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}