{"id":12615,"date":"2026-02-12T08:13:18","date_gmt":"2026-02-12T05:13:18","guid":{"rendered":"https:\/\/nesiller.com\/phenylketonuria-pku\/"},"modified":"2026-10-03T18:35:23","modified_gmt":"2026-10-03T15:35:23","slug":"phenylketonuria-pku","status":"publish","type":"page","link":"https:\/\/nesiller.com\/en\/carrier-screening\/phenylketonuria-pku\/","title":{"rendered":"Phenylketonuria (PKU)"},"content":{"rendered":"\t\t
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Carrier Screening and Reproductive Genetics<\/a><\/div>\t\t\t\t<\/div>\n\t\t\t\t
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Phenylketonuria (PKU)<\/h1>\t\t\t\t<\/div>\n\t\t\t\t
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The First Step in Family Planning<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t

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Phenylketonuria (PKU) results from the autosomal recessive inheritance of mutations in the <\/span>PAH<\/span><\/i> gene. This condition leads to impaired phenylalanine breakdown, causing the amino acid to accumulate in the blood.<\/span><\/p>

Accumulated phenylalanine can affect brain development and, if untreated, may lead to learning difficulties, intellectual disability, and nervous system complications. Therefore, carrier screening is critical for the prevention of the disease.<\/span><\/p>

Feature\u00a0<\/b><\/p><\/td>

Details<\/b><\/p><\/td><\/tr>

Method<\/b><\/p><\/td>

NGS \/ MLPA<\/span><\/p><\/td><\/tr>

Coverage<\/b><\/p><\/td>

PAH <\/span><\/i>gene<\/span><\/p><\/td><\/tr>

Sample Requirement\u00a0<\/b><\/p><\/td>

Blood (EDTA Tube)<\/span><\/p>

Amniotic Fluid\u00a0<\/span><\/p>

CVS<\/span><\/p><\/td><\/tr>

Turnaround Time (TAT)\u00a0<\/b><\/p><\/td>

21 days<\/span><\/p><\/td><\/tr><\/tbody><\/table>


*For a detailed sample collection, please contact our team.<\/span><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"

Carrier Screening and Reproductive Genetics Phenylketonuria (PKU) The First Step in Family […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":12705,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"elementor_header_footer","meta":{"footnotes":""},"class_list":["post-12615","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/pages\/12615","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/comments?post=12615"}],"version-history":[{"count":16,"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/pages\/12615\/revisions"}],"predecessor-version":[{"id":20821,"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/pages\/12615\/revisions\/20821"}],"up":[{"embeddable":true,"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/pages\/12705"}],"wp:attachment":[{"href":"https:\/\/nesiller.com\/en\/wp-json\/wp\/v2\/media?parent=12615"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}