{"id":275107,"date":"2024-09-12T07:24:03","date_gmt":"2024-09-12T05:24:03","guid":{"rendered":"https:\/\/staging.laboklin.com\/labogen\/labogen_wp\/index.php\/paquets-combinaisons-de-tests-chat\/labogenetics-xxl-cat\/"},"modified":"2024-09-12T07:24:03","modified_gmt":"2024-09-12T05:24:03","slug":"labogenetics-xxl-cat","status":"publish","type":"page","link":"https:\/\/labogen.com\/fr\/paquets-combinaisons-de-tests-chat\/labogenetics-xxl-cat\/","title":{"rendered":"LABOGenetics XXL Cat"},"content":{"rendered":"<div class=\"wrap-top\"><div class=\"wrap-left\"><h1 class=\"header-1\">LABOGenetics XXL Cat <\/h1><h4><strong>General description<\/strong><\/h4><p class=\"bodytext\">LABOGenetics XXL Cat can screen your cat for more than 50 genetic variants. You will receive information on hereditary diseases, genetic risk factors, coat colours and coat characteristics. The determination of the genetic blood group is also included. LABOGenetics XXL Cat is available for cats of all breeds and mixes.<\/p><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-details\">Order details<\/summary><table border=\"0\"><tr><td width=\"45%\"><span><strong>Test number<\/strong><\/span><\/td><td>9330<\/td><\/tr><tr><td><strong>Sample material<\/strong><\/td><td>0.5 ml EDTA blood, 1x special swab (eNAT)<\/td><\/tr><tr><td><strong>Test duration<\/strong><\/td><td>10-14 working days<\/td><\/tr><\/table><\/details><\/div><div class=\"order-now\"><strong><a href=\"https:\/\/shop.labogen.com\">Order now ...<\/a><\/strong><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Congenital myasthenic syndrome (CMS)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>muscular<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>3 weeks <\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>COLQ<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>C-T<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA001621\/9685\/' target='_blank'>OMIA:001621-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Progressive retinal atrophy (pd-PRA)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>ophthalmic<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>5 weeks <\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>AIPL1<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>C-T<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA001222\/9685\/' target='_blank'>OMIA:001222-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Cystinuria<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>urological<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>young age<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>SLC7A9<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>T-A<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA002023\/9685\/' target='_blank'>OMIA:002023-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Gangliosidosis (GM2)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>neurological<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>3 months<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>HEXB<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>DEL<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA001462\/9685\/' target='_blank'>OMIA:001462-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Autoimmune lymphoproliferative syndrome (ALPS)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>immunological<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>8 weeks <\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>FASLG<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>INS<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA002064\/9685\/' target='_blank'>OMIA:002064-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Hypertrophic cardiomyopathy (HCM4)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>cardiac<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal dominant with incomplete penetrance<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>1-14 years<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>ALMS1<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>G-C<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA002316\/9685\/' target='_blank'>OMIA:002316-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Factor XI deficiency (F11)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>hematologic<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>associated<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>F11<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>G-A<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000363\/9685\/' target='_blank'>OMIA:000363-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Acrodermatitis enteropathica (AE)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>dermatologic<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>6-8 weeks <\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>SLC39A4<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>C-G<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000593\/9685\/' target='_blank'>OMIA:000593-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Alpha-Mannosidosis (AMD)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>neurological<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>MAN2B1<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>DEL<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000625\/9685\/' target='_blank'>OMIA:000625-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>MDR1 gene variant <\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>metabolic<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>ABCB1<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>DEL<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA001402\/9685\/' target='_blank'>OMIA:001402-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Factor XII deficiency (F12)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>hematologic<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive (see text)<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>associated<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>F12<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>G-C and DEL<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000364\/9685\/' target='_blank'>OMIA:000364-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Gangliosidosis (GM2)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>neurological<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>2 months <\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>HEXB<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>DEL<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA001462\/9685\/' target='_blank'>OMIA:001462-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Hypotrichosis and short life expectancy<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>systemic<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>from birth<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>FOXN1<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>DEL<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA001949\/9685\/' target='_blank'>OMIA:001949-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Progressive retinal atrophy (b-PRA)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>ophthalmic<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>7 weeks <\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>KIF3B<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>C-T<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA002267\/9685\/' target='_blank'>OMIA:002267-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Osteochondrodysplasia (OCD)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>skeletal<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal dominant<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>TRPV4<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>C-A<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000319\/9685\/' target='_blank'>OMIA:000319-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Primary congenital glaucoma (PCG)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>ophthalmic<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>from birth<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>LTBP2<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>INS<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA002017\/9685\/' target='_blank'>OMIA:002017-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Hypokalaemia<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>muscular<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>WNK4<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>C-T<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA001759\/9685\/' target='_blank'>OMIA:001759-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Gangliosidosis (GM1)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>neurological<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>2 months<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>GLB1<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>C-G<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000402\/9685\/' target='_blank'>OMIA:000402-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Polycystic kidney disease (PKD)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>nephrological<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal dominant<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>8 months<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>PKD1<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>C-A<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000807\/9685\/' target='_blank'>OMIA:000807-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Pyruvate kinase deficiency (PK)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>hematologic<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>PKLR<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>G-A<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000844\/9685\/' target='_blank'>OMIA:000844-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Myotonia congenita<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>muscular<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>CLCN1<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>G-T<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000698\/9685\/' target='_blank'>OMIA:000698-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Head Defect<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>skeletal<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>see Infotext<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>ALX1<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>DEL<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA001551\/9685\/' target='_blank'>OMIA:001551-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Mucopolysaccharidosis type VI (MPS6)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>systemic<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>ARSB<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>A-G, C-T<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000666\/9685\/' target='_blank'>OMIA:000666-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Mucopolysaccharidosis type VII (MPS7)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>skeletal<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>2 months<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>GUSB<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>G-A<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000667\/9685\/' target='_blank'>OMIA:000667-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Hypertrophic cardiomyopathy (HCM1)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>cardiac<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal dominant<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>MYBPC3<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>C-G<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000515\/9685\/' target='_blank'>OMIA:000515-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Glycogen storage disease type IV (GSD4)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>neuromuscular<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>5 months<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>GBE1<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>COMPLEX<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000420\/9685\/' target='_blank'>OMIA:000420-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Hypertrophic cardiomyopathy (HCM3)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>cardiac<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal dominant with incomplete penetrance<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>MYBPC3<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>G-A<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000515\/9685\/' target='_blank'>OMIA:000515-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Progressive retinal atrophy (rdAc-PRA)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>ophthalmic<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>1.5-2 years<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>CEP290<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>A-C<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA001244\/9685\/' target='_blank'>OMIA:001244-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Genetic blood group <\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>hematologic<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>Allelische Reihe nach Dominanz: N>c>b<\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>CMAH<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>COMPLEX<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA000119\/9685\/' target='_blank'>OMIA:000119-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div class=\"wrap-top\"><div class=\"wrap-left\"><h4>Spinal muscular atrophy (SMA)<\/h4><\/div><div class=\"wrap-right\"><div class=\"wrap-toggle\"><div class=\"toggle-details\"><details><summary class=\"summary-specs\">Test specifications<\/summary><table border=\"0\"><tr><td width=\"45%\"><strong>Symptom complex<\/strong><\/td><td>neuromuscular<\/td><\/tr><tr><td width=\"45%\"><strong>Inheritance<\/strong><\/td><td>autosomal recessive<\/td><\/tr><tr><td width=\"45%\"><strong>Age of onset<\/strong><\/td><td>12 weeks <\/td><\/tr><tr><td width=\"45%\"><strong>Causality<\/strong><\/td><td>causally<\/td><\/tr><tr><td width=\"45%\"><strong>Gene<\/strong><\/td><td>LIX1<\/td><\/tr><tr><td width=\"45%\"><strong>Mutation<\/strong><\/td><td>COMPLEX<\/td><\/tr><tr><td width=\"45%\"><strong>Literature<\/strong><\/td><td><a href='https:\/\/www.omia.org\/OMIA002389\/9685\/' target='_blank'>OMIA:002389-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div><div class=\"clear-both\"><\/div><\/div><div style=\"margin-bottom: 50px; clear: both;\">&nbsp;<\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":0,"parent":269488,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-275107","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/labogen.com\/fr\/wp-json\/wp\/v2\/pages\/275107","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labogen.com\/fr\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/labogen.com\/fr\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/labogen.com\/fr\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/labogen.com\/fr\/wp-json\/wp\/v2\/comments?post=275107"}],"version-history":[{"count":0,"href":"https:\/\/labogen.com\/fr\/wp-json\/wp\/v2\/pages\/275107\/revisions"}],"up":[{"embeddable":true,"href":"https:\/\/labogen.com\/fr\/wp-json\/wp\/v2\/pages\/269488"}],"wp:attachment":[{"href":"https:\/\/labogen.com\/fr\/wp-json\/wp\/v2\/media?parent=275107"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}