Combination Sphynx

General description

includes: Genetic blood group, Hypertrophic cardiomyopathy (HCM4), Hypokalaemia and Congenital myasthenic syndrome (CMS).

Breeds

Sphynx

Order details
Test number8723
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days

Congenital myasthenic syndrome (CMS)

Test specifications
Symptom complexmuscular
Inheritanceautosomal recessive
Age of onset3 weeks
Causalitycausally
GeneCOLQ
MutationC-T
LiteratureOMIA:001621-9685

Hypertrophic cardiomyopathy (HCM4)

Test specifications
Symptom complexcardiac
Inheritanceautosomal dominant with incomplete penetrance
Age of onset1-14 years
Causalitycausally
GeneALMS1
MutationG-C
LiteratureOMIA:002316-9685

Hypokalaemia

Test specifications
Symptom complexmuscular
Causalitycausally
GeneWNK4
MutationC-T
LiteratureOMIA:001759-9685

Genetic blood group

Test specifications
Symptom complexhematologic
InheritanceAllelische Reihe nach Dominanz: N>c>b
Causalitycausally
GeneCMAH
MutationCOMPLEX
LiteratureOMIA:000119-9685