LABOGenetics XXL Cat

General description

Order details

Test number	9330
Sample material	0.5 ml EDTA blood, 1x special swab (eNAT)
Test duration	14-21 working days

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Congenital myasthenic syndrome (CMS)

Test specifications

Symptom complex	muscular
Inheritance	autosomal recessive
Age of onset	3 weeks
Causality	causally
Gene	COLQ
Mutation	C-T
Literature	OMIA:001621-9685

Progressive retinal atrophy (pd-PRA)

Test specifications

Symptom complex	ophthalmic
Inheritance	autosomal recessive
Age of onset	5 weeks
Causality	causally
Gene	AIPL1
Mutation	C-T
Literature	OMIA:001222-9685

Cystinuria

Test specifications

Symptom complex	urological
Inheritance	autosomal recessive
Age of onset	young age
Causality	causally
Gene	SLC7A9
Mutation	T-A
Literature	OMIA:002023-9685

Gangliosidosis (GM2)

Test specifications

Symptom complex	neurological
Inheritance	autosomal recessive
Age of onset	3 months
Causality	causally
Gene	HEXB
Mutation	DEL
Literature	OMIA:001462-9685

Autoimmune lymphoproliferative syndrome (ALPS)

Test specifications

Symptom complex	immunological
Inheritance	autosomal recessive
Age of onset	8 weeks
Causality	causally
Gene	FASLG
Mutation	INS
Literature	OMIA:002064-9685

Hypertrophic cardiomyopathy (HCM4)

Test specifications

Symptom complex	cardiac
Inheritance	autosomal dominant with incomplete penetrance
Age of onset	1-14 years
Causality	causally
Gene	ALMS1
Mutation	G-C
Literature	OMIA:002316-9685

Factor XI deficiency (F11)

Test specifications

Symptom complex	hematologic
Inheritance	autosomal recessive
Causality	associated
Gene	F11
Mutation	G-A
Literature	OMIA:000363-9685

Acrodermatitis enteropathica (AE)

Test specifications

Symptom complex	dermatologic
Inheritance	autosomal recessive
Age of onset	6-8 weeks
Causality	causally
Gene	SLC39A4
Mutation	C-G
Literature	OMIA:000593-9685

Alpha-Mannosidosis (AMD)

Test specifications

Symptom complex	neurological
Inheritance	autosomal recessive
Causality	causally
Gene	MAN2B1
Mutation	DEL
Literature	OMIA:000625-9685

MDR1 gene variant

Test specifications

Symptom complex	metabolic
Inheritance	autosomal recessive
Causality	causally
Gene	ABCB1
Mutation	DEL
Literature	OMIA:001402-9685

Factor XII deficiency (F12)

Test specifications

Symptom complex	hematologic
Inheritance	autosomal recessive
Causality	associated
Gene	F12
Mutation	DEL
Literature	OMIA:000364-9685

Gangliosidosis (GM2)

Test specifications

Symptom complex	neurological
Age of onset	2 months
Causality	causally
Gene	HEXB
Mutation	DEL
Literature	OMIA:001462-9685

Hypotrichosis and short life expectancy

Test specifications

Symptom complex	systemic
Inheritance	autosomal recessive
Age of onset	from birth
Causality	causally
Gene	FOXN1
Mutation	DEL
Literature	OMIA:001949-9685

Progressive retinal atrophy (b-PRA)

Test specifications

Symptom complex	ophthalmic
Inheritance	autosomal recessive
Age of onset	7 weeks
Causality	causally
Gene	KIF3B
Mutation	C-T
Literature	OMIA:002267-9685

Osteochondrodysplasia (OCD)

Test specifications

Symptom complex	skeletal
Inheritance	autosomal dominant
Causality	causally
Gene	TRPV4
Mutation	C-A
Literature	OMIA:000319-9685

Primary congenital glaucoma (PCG)

Test specifications

Symptom complex	ophthalmic
Inheritance	autosomal recessive
Age of onset	from birth
Causality	causally
Gene	LTBP2
Mutation	INS
Literature	OMIA:002017-9685

Hypokalaemia

Test specifications

Symptom complex	muscular
Causality	causally
Gene	WNK4
Mutation	C-T
Literature	OMIA:001759-9685

Gangliosidosis (GM1)

Test specifications

Symptom complex	neurological
Inheritance	autosomal recessive
Age of onset	2 months
Causality	causally
Gene	GLB1
Mutation	C-G
Literature	OMIA:000402-9685

Polycystic kidney disease (PKD)

Test specifications

Symptom complex	nephrological
Inheritance	autosomal dominant
Age of onset	8 months
Causality	causally
Gene	PKD1
Mutation	C-A
Literature	OMIA:000807-9685

Pyruvate kinase deficiency (PK)

Test specifications

Symptom complex	hematologic
Inheritance	autosomal recessive
Causality	causally
Gene	PKLR
Mutation	G-A
Literature	OMIA:000844-9685

Myotonia congenita

Test specifications

Symptom complex	muscular
Causality	causally
Gene	CLCN1
Mutation	G-T
Literature	OMIA:000698-9685

Head Defect

Test specifications

Symptom complex	skeletal
Causality	causally
Gene	ALX1
Mutation	DEL
Literature	OMIA:001551-9685

Mucopolysaccharidosis type VI (MPS6)

Test specifications

Symptom complex	systemic
Causality	causally
Gene	ARSB
Mutation	A-G, C-T
Literature	OMIA:000666-9685

Mucopolysaccharidosis type VII (MPS7)

Test specifications

Symptom complex	skeletal
Age of onset	2 months
Causality	causally
Gene	GUSB
Mutation	G-A
Literature	OMIA:000667-9685

Hypertrophic cardiomyopathy (HCM1)

Test specifications

Symptom complex	cardiac
Inheritance	autosomal dominant
Causality	causally
Gene	MYBPC3
Mutation	C-G
Literature	OMIA:000515-9685

Glycogen storage disease type IV (GSD4)

Test specifications

Symptom complex	neuromuscular
Inheritance	autosomal recessive
Age of onset	5 months
Causality	causally
Gene	GBE1
Mutation	COMPLEX
Literature	OMIA:000420-9685

Hypertrophic cardiomyopathy (HCM3)

Test specifications

Symptom complex	cardiac
Inheritance	autosomal dominant
Causality	causally
Gene	MYBPC3
Mutation	G-A
Literature	OMIA:000515-9685

Progressive retinal atrophy (rdAc-PRA)

Test specifications

Symptom complex	ophthalmic
Inheritance	autosomal recessive
Age of onset	1.5-2 years
Causality	causally
Gene	CEP290
Mutation	A-C
Literature	OMIA:001244-9685

Genetic blood group

Test specifications

Symptom complex	hematologic
Inheritance	Allelische Reihe nach Dominanz: N>c>b
Causality	causally
Gene	CMAH
Mutation	COMPLEX
Literature	OMIA:000119-9685

Spinal muscular atrophy (SMA)

Test specifications

Symptom complex	neuromuscular
Inheritance	autosomal recessive
Age of onset	12 weeks
Causality	causally
Gene	LIX1
Mutation	COMPLEX
Literature	OMIA:002389-9685