Combination Burmese

General description

includes: Gangliosidosis, genetic blood groop, head defect and Hypokalaemia

Breeds

Burmese

Order details
Test number8715
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days

Gangliosidosis (GM2)

Test specifications
Symptom complexneurological
Age of onset3 months
Causalitycausally
GeneHEXB
MutationDEL
LiteratureOMIA:001462-9685

Hypokalaemia

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

Head Defect

Test specifications
Symptom complexskeletal
Causalitycausally
GeneALX1
MutationDEL
LiteratureOMIA:001551-9685

Genetic blood group

Test specifications
Symptom complexhematologic
Causalitycausally
GeneCMAH
MutationCOMPLEX
LiteratureOMIA:000119-9685