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LABOGenetics XXL Katze

General description

Order details
Test number9330
Sample material0,5 ml EDTA Blut, 1x Spezailabstrich (eNAT)
Test duration14-21 Werktage

Hypotrichose und Kurzlebigkeit

Test specifications
Symptom complexsystemisch
Age of onsetab Geburt
Causalityursächlich
GeneFOXN1
MutationDEL
LiteratureOMIA:001949-9685

Gangliosidose (GM1)

Test specifications
Symptom complexneurologisch
Age of onset2 Monate
Causalityursächlich
GeneGLB1
MutationC-G
LiteratureOMIA:000402-9685

Pyruvatkinase-Defizienz (PK)

Test specifications
Symptom complexhämatologisch
Causalityursächlich
GenePKLR
MutationG-A
LiteratureOMIA:000844-9685

Myotonia congenita

Test specifications
Symptom complexmuskulär
Causalityursächlich
GeneCLCN1
MutationG-T
LiteratureOMIA:000698-9685

Gangliosidose (GM2)

Test specifications
Symptom complexneurologisch
Age of onset2 Monate
Causalityursächlich
GeneHEXB
MutationDEL
LiteratureOMIA:001462-9685

MDR1-Genvariante

Test specifications
Symptom complexmetabolisch
Causalityursächlich
GeneABCB1
MutationDEL
LiteratureOMIA:001402-9685

genetische Blutgruppenbestimmung

Test specifications
Symptom complexhämatologisch
Causalityursächlich
GeneCMAH
MutationCOMPLEX
LiteratureOMIA:000119-9685

Progressive Retinaatrophie (pd-PRA)

Test specifications
Symptom complexophtalmisch
Age of onset5 Wochen
Causalityursächlich
GeneAIPL1
MutationC-T
LiteratureOMIA:001222-9685

Hypertrophe Kardiomyopathie (HCM1)

Test specifications
Symptom complexcardial
Causalityursächlich
GeneMYBPC3
MutationC-G
LiteratureOMIA:000515-9685

Head Defect

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

Hypertrophe Kardiomyopathie (HCM4)

Test specifications
Symptom complexcardial
Age of onset1-14 Jahre
Causalityursächlich
GeneALMS1
MutationG-C
LiteratureOMIA:002316-9685

Osteochondrodysplasie

Test specifications
Symptom complexskeletal
Causalityursächlich
GeneTRPV4
MutationC-A
LiteratureOMIA:000319-9685

Gangliosidose (GM2)

Test specifications
Symptom complexneurologisch
Age of onset3 Monate
Causalityursächlich
GeneHEXB
MutationDEL
LiteratureOMIA:001462-9685

Hypokaliämie

Test specifications
Symptom complexmuskulär
Causalityursächlich
GeneWNK4
MutationC-T
LiteratureOMIA:001759-9685

Cystinurie

Test specifications
Symptom complexurologisch
Age of onsetjugendliches Alter
Causalityursächlich
GeneSLC7A9
MutationT-A
LiteratureOMIA:002023-9685

Acrodermatitis enteropathica (AE)

Test specifications
Symptom complexdermatologisch
Age of onset6-8 Wochen
Causalityursächlich
GeneSLC39A4
MutationC-G
LiteratureOMIA:000593-9685

Faktor XI-Defizienz (F11)

Test specifications
Symptom complexhämatologisch
Causalityassoziiert
GeneF11
MutationG-A
LiteratureOMIA:000363-9685

Spinale Muskelatrophie (SMA)

Test specifications
Symptom complexneuromuskulär
Age of onset12 Wochen
Causalityursächlich
GeneLIX1
MutationCOMPLEX
LiteratureOMIA:002389-9685

Primäres erbliches Glaukom (PCG)

Test specifications
Symptom complexophtalmisch
Age of onsetab Geburt
Causalityursächlich
GeneLTBP2
MutationINS
LiteratureOMIA:002017-9685

Mucopolysaccharidose Typ VI (MPS6)

Test specifications
Symptom complexsystemisch
Causalityursächlich
GeneARSB
MutationA-G, C-T
LiteratureOMIA:000666-9685

Mucopolysaccharidose Typ VII (MPS7)

Test specifications
Symptom complexskeletal
Age of onset2 Monate
Causalityursächlich
GeneGUSB
MutationG-A
LiteratureOMIA:000667-9685

Alpha-Mannosidose (AMD)

Test specifications
Symptom complexneurologisch
Causalityursächlich
GeneMAN2B1
MutationDEL
LiteratureOMIA:000625-9685

Polyzystische Nierenerkrankung (PKD)

Test specifications
Symptom complexnephrologisch
Age of onset8 Monate
Causalityursächlich
GenePKD1
MutationC-A
LiteratureOMIA:000807-9685

Autoimmunes lymphoproliferatives Syndrom (ALPS)

Test specifications
Symptom compleximmunologisch
Age of onset8 Wochen
Causalityursächlich
GeneFASLG
MutationINS
LiteratureOMIA:002064-9685

Congenitales myasthenes Syndrom (CMS)

Test specifications
Symptom complexmuskulär
Age of onset3 Wochen
Causalityursächlich
GeneCOLQ
MutationC-T
LiteratureOMIA:001621-9685

Glycogenspeicherkrankheit Typ IV (GSD4)

Test specifications
Symptom complexneuromuskulär
Age of onset5 Monate
Causalityursächlich
GeneGBE1
MutationCOMPLEX
LiteratureOMIA:000420-9685

Hypertrophe Kardiomyopathie (HCM3)

Test specifications
Symptom complexcardial
Causalityursächlich
GeneMYBPC3
MutationG-A
LiteratureOMIA:000515-9685

Faktor XII-Defizienz (F12)

Test specifications
Symptom complexhämatologisch
Causalityassoziiert
GeneF12
MutationDEL
LiteratureOMIA:000364-9685

Progressive Retinaatrophie (rdAc-PRA)

Test specifications
Symptom complexophtalmisch
Age of onset1,5-2 Jahre
Causalityursächlich
GeneCEP290
MutationA-C
LiteratureOMIA:001244-9685

Progressive Retinaatrophie (b-PRA)

Test specifications
Symptom complexophtalmisch
Age of onset7 Wochen
Causalityursächlich
GeneKIF3B
MutationC-T
LiteratureOMIA:002267-9685