{"id":282936,"date":"2025-08-06T10:18:05","date_gmt":"2025-08-06T08:18:05","guid":{"rendered":"https:\/\/labogen.com\/?page_id=282936"},"modified":"2025-08-06T10:18:06","modified_gmt":"2025-08-06T08:18:06","slug":"combination-dalmatian","status":"publish","type":"page","link":"https:\/\/labogen.com\/uk\/%d0%bf%d0%b0%d0%ba%d0%b5%d1%82%d0%b8-%d0%ba%d0%be%d0%bc%d0%b1%d1%96%d0%bd%d0%b0%d1%86%d1%96%d1%97-%d1%82%d0%b5%d1%81%d1%82%d1%96%d0%b2-%d1%81%d0%be%d0%b1%d0%b0%d0%ba%d0%b0\/combination-dalmatian\/","title":{"rendered":"Combination Dalmatian"},"content":{"rendered":"

Combination Dalmatian<\/h1>

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

includes: Acute respiratory distress syndrome (ARDS), Disproportionate dwarfism, Hyperurikosuria (HUU\/SLC), Lysosomal storage disease (LSD), B-locus, E-locus e1<\/p>

Breeds<\/span><\/strong><\/h4>

Dalmatian<\/p>

Detailed description<\/summary>

The following tests are included in this combination: Acute respiratory distress syndrome (ARDS), Disproportionate dwarfism, Hyperurikosuria (HUU\/SLC), Lysosomal storage disease (LSD), B-locus, E-locus e1<\/p><\/details><\/div><\/div>

<\/div><\/div>

Acute respiratory distress syndrome (ARDS)<\/h4><\/div>
Order details<\/summary>
Test number<\/strong><\/span><\/td>8966<\/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>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>respiratory<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Age of onset<\/strong><\/td>5-10 months<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>ANLN<\/td><\/tr>
Mutation<\/strong><\/td>C-T<\/td><\/tr>
Literature<\/strong><\/td>OMIA:002539-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>

Hyperuricosuria (HUU\/SLC)<\/h4><\/div>
Order details<\/summary>
Test number<\/strong><\/span><\/td>8966<\/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>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>urological<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Causality<\/strong><\/td>causally<\/td><\/tr>
Gene<\/strong><\/td>SLC2A9<\/td><\/tr>
Mutation<\/strong><\/td>G-T<\/td><\/tr>
Literature<\/strong><\/td>OMIA:001033-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>

E-locus e1 (apricot, cream, lemon, red, yellow)<\/h4><\/div>
Order details<\/summary>
Test number<\/strong><\/span><\/td>8966<\/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>
Test specifications<\/summary>
Inheritance<\/strong><\/td>Allelic series: E dominant over e1 and e2<\/td><\/tr>
Gene<\/strong><\/td>MC1R<\/td><\/tr>
Mutation<\/strong><\/td>G-A<\/td><\/tr>
Literature<\/strong><\/td>OMIA:001199-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>

B-locus (alleles: bd, bc, bs) (brown, chocolate, liver(nose))<\/h4><\/div>
Order details<\/summary>
Test number<\/strong><\/span><\/td>8966<\/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>
Test specifications<\/summary>
Inheritance<\/strong><\/td>Allelic series: B dominant over bd, bc, bs<\/td><\/tr>
Gene<\/strong><\/td>TYRP1<\/td><\/tr>
Literature<\/strong><\/td>OMIA:001249-9615<\/a><\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>

Disproportionate dwarfism - Dalmatian<\/h4>

The first cases of documented severe skeletal dysplasia<\/strong> in Dalmatian dogs were noted in the early 1980s, followed by sporadic cases in the following years. Skeletal dysplasias represent a group of inherited diseases causing abnormalities in cartilage and bone<\/strong>, resulting in short stature and dwarfism<\/strong>. In Dalmatians, chondrodysplasia<\/strong> (a subset of skeletal dysplasia) can be found, which primarily affects endochondral ossification<\/strong> (the process by which cartilage is converted into bone) leading to disproportionate limb shortening<\/strong>.<\/p>

Affected dogs show short legs and clear gait abnormalities<\/strong>, both becoming visible at the age of two to three months<\/strong>. The front legs are curved<\/strong> with an outward-angled elbow joint and an outward rotation of the paw. Radiological examination revealed severe limb deformities, including shortened radii and ulnae as well as tibia and fibula, irregular growth plates and disrupted endochondral ossification. The axial skeleton is shorter in length<\/strong> compared to unaffected dogs.<\/p>

A genetic variant of the PRKG2<\/em> gene<\/strong> has been found to be associated with the disease in the Dalmatian breed.  The PRKG2<\/em> encoded protein plays a crucial role in endochondral ossification. Extended screening of the variant revealed its continued segregation in the current Dalmatian population.<\/p><\/p><\/div>

Order details<\/summary>
Test number<\/strong><\/span><\/td>8966<\/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>
Test specifications<\/summary>
Symptom complex<\/strong><\/td>systemic<\/td><\/tr>
Inheritance<\/strong><\/td>autosomal recessive<\/td><\/tr>
Age of onset<\/strong><\/td>2-3 months<\/td><\/tr>
Gene<\/strong><\/td>PRKG2<\/td><\/tr><\/table><\/details><\/div>
Order now ...<\/a><\/strong><\/div><\/div><\/div>
<\/div><\/div>
 <\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":15,"featured_media":0,"parent":269729,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-282936","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/labogen.com\/uk\/wp-json\/wp\/v2\/pages\/282936","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/labogen.com\/uk\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/labogen.com\/uk\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/labogen.com\/uk\/wp-json\/wp\/v2\/users\/15"}],"replies":[{"embeddable":true,"href":"https:\/\/labogen.com\/uk\/wp-json\/wp\/v2\/comments?post=282936"}],"version-history":[{"count":1,"href":"https:\/\/labogen.com\/uk\/wp-json\/wp\/v2\/pages\/282936\/revisions"}],"predecessor-version":[{"id":282940,"href":"https:\/\/labogen.com\/uk\/wp-json\/wp\/v2\/pages\/282936\/revisions\/282940"}],"up":[{"embeddable":true,"href":"https:\/\/labogen.com\/uk\/wp-json\/wp\/v2\/pages\/269729"}],"wp:attachment":[{"href":"https:\/\/labogen.com\/uk\/wp-json\/wp\/v2\/media?parent=282936"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}