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Combination Miniature Schnauzer

General description

includes: Charcot-Marie-Tooth Neuropathy (CMT), Mycobacterium avium complex sensitivity (MAC), Myotonia congenita, Persistent Müllerian duct syndrome (PMDS), Progressive retinal atrophy (Type B1-PRA, HIVEP3) and Spondylocostal dysostosis (Comma defect).

Breeds

Miniature Schnauzer

Order details
Test number8619
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days

Spondylocostal dysostosis (Comma defect)

Test specifications
Symptom complexskeletal
Inheritanceautosomal recessive
Age of onsetfrom birth
Causalitycausally
GeneHES7
MutationDEL
LiteratureOMIA:001944-9615

Mycobacterium avium complex sensitivity (MAC)

Test specifications
Symptom compleximmunological
Inheritanceautosomal recessive
Age of onset1-8 months
Causalitycausally
GeneCARD9
MutationDEL

Persistent Müllerian duct syndrome (PMDS)

Test specifications
Symptom complexurological
Inheritanceautosomal recessive
Age of onsetfrom birth
Causalitycausally
GeneAMHR2
MutationG-A
LiteratureOMIA:002775-9615

Progressive retinal atrophy (Type B1-PRA, HIVEP3)

Test specifications
Symptom complexophthalmic
Inheritanceautosomal recessive
Causalitycausally
GeneHIVEP3
MutationG-A
LiteratureOMIA:001311-9615