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Combination Shih Tzu

General description

includes the following tests: Macrothrombocytopenia (MTC), Prekallikrein deficiency (KLK), Progressive retinal atrophy (JPH2-PRA), Robinow-like-syndrome (DVL2)

Breeds

Shih Tzu

Order details
Test number8835
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days

Prekallikrein deficiency (KLK)

Test specifications
Symptom complexhematologic
Inheritanceautosomal recessive
Causalitycausally
GeneKLKB1
MutationA-T
LiteratureOMIA:000819-9615

Robinow-like syndrome (DVL2)

Test specifications
Symptom complexskeletal
Inheritanceautosomal recessive with incomplete penetrance (see text)
Causalityassociated
GeneDVL2
MutationDEL
LiteratureOMIA:002186-9615

Progressive retinal atrophy (JPH2-PRA)

Test specifications
Symptom complexophthalmic
Inheritanceautosomal recessive
Age of onset5-9 years
Causalitycausally
GeneJPH2
MutationA-C
LiteratureOMIA:000830-9615