{"id":228350,"date":"2024-09-12T07:23:54","date_gmt":"2024-09-12T05:23:54","guid":{"rendered":"http:\/\/staging.laboklin.com\/labogen\/labogen_wp\/paket-erbkrankheiten-katze"},"modified":"2024-09-12T07:23:54","modified_gmt":"2024-09-12T05:23:54","slug":"paket-erbkrankheiten-katze","status":"publish","type":"page","link":"https:\/\/labogen.com\/fi\/pakete-testkombinationen-katze\/paket-erbkrankheiten-katze\/","title":{"rendered":"Paket Erbkrankheiten Katze"},"content":{"rendered":"

Combination hereditary diseases cat<\/h1>

General description<\/strong><\/h4>

includes the following genetic tests: HCM1, HCM3, GSD IV, PKD, rdAc-PRA, PK-Def., SMA and genetic bloodgroup<\/p><\/div>

Order details<\/summary>
Test number<\/strong><\/span><\/td>8350<\/td><\/tr>
Sample material<\/strong><\/td>0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)<\/td><\/tr>
Test duration<\/strong><\/td>7-14 working days<\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>

Polycystic kidney disease (PKD)<\/h4><\/div>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>nephrological<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal dominant<\/td><\/tr>
Age of onset<\/strong><\/td>8 months<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>PKD1<\/td><\/tr>
Mutation<\/strong><\/td>C-A<\/td><\/tr>
Literature<\/strong><\/td>OMIA:000807-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div>
<\/div><\/div>

Pyruvate kinase deficiency (PK)<\/h4><\/div>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>hematologic<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>PKLR<\/td><\/tr>
Mutation<\/strong><\/td>G-A<\/td><\/tr>
Literature<\/strong><\/td>OMIA:000844-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div>
<\/div><\/div>

Hypertrophic cardiomyopathy (HCM1)<\/h4><\/div>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>cardiac<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal dominant<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>MYBPC3<\/td><\/tr>
Mutation<\/strong><\/td>C-G<\/td><\/tr>
Literature<\/strong><\/td>OMIA:000515-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div>
<\/div><\/div>

Glycogen storage disease type IV (GSD4)<\/h4><\/div>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>neuromuscular<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Age of onset<\/strong><\/td>5 months<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>GBE1<\/td><\/tr>
Mutation<\/strong><\/td>COMPLEX<\/td><\/tr>
Literature<\/strong><\/td>OMIA:000420-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div>
<\/div><\/div>

Hypertrophic cardiomyopathy (HCM3)<\/h4><\/div>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>cardiac<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal dominant with incomplete penetrance<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>MYBPC3<\/td><\/tr>
Mutation<\/strong><\/td>G-A<\/td><\/tr>
Literature<\/strong><\/td>OMIA:000515-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div>
<\/div><\/div>

Progressive retinal atrophy (rdAc-PRA)<\/h4><\/div>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>ophthalmic<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Age of onset<\/strong><\/td>1.5-2 years<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>CEP290<\/td><\/tr>
Mutation<\/strong><\/td>A-C<\/td><\/tr>
Literature<\/strong><\/td>OMIA:001244-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div>
<\/div><\/div>

Genetic blood group <\/h4><\/div>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>hematologic<\/td><\/tr>
Inheritance<\/strong><\/td>Allelische Reihe nach Dominanz: N>c>b<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>CMAH<\/td><\/tr>
Mutation<\/strong><\/td>COMPLEX<\/td><\/tr>
Literature<\/strong><\/td>OMIA:000119-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div>
<\/div><\/div>

Spinal muscular atrophy (SMA)<\/h4><\/div>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>neuromuscular<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Age of onset<\/strong><\/td>12 weeks <\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>LIX1<\/td><\/tr>
Mutation<\/strong><\/td>COMPLEX<\/td><\/tr>
Literature<\/strong><\/td>OMIA:002389-9685<\/a><\/td><\/tr><\/table><\/details><\/div><\/div><\/div>
<\/div><\/div>
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