Search Term: Neuronal Ceroid Lipofuscinosis 6 (NCL6)
Breeds
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Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
Disease Name
Neuronal Ceroid Lipofuscinosis 6 (NCL6)
OMIA
1443
Gene Name
CLN6
Mutation
c.829T>C
OMIM
601780
Disease Code
NCL6
Test Type
Genetic Disease/Disorder
Details
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Symptoms (18 months of age) : Vision loss & full blindness & behaviour changes (hyperactivity, circling, anxiety and decreasing cognitive abilities)
Details 2
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Symptoms (18 months of age) : Vision loss & full blindness & behaviour changes (hyperactivity, circling, anxiety and decreasing cognitive abilities)
Published
Katz,ML.,Farias,FH.,Sanders,DN.,Zeng,R.,Khan,S.,Johnson,GS.,O'Brien,DP.: AmissensemutationincanineCLN6inanAustralianshepherdwithneuronalceroidlipofuscinosis.JBiomedBiotechnol2011:198042,2011.Pubmedreference:21234413.DOI:10.1155/2011/198042.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Gene Name Text
ceroid-lipofuscinosis, neuronal 6, late infantile, variant
GTPs
Toronto, Ontario
CA
CA
Boston, MA
US
US
Embark
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/LAB Out Sourced Testing Any Patents Held Sponsor
Maribor
SI
SI
EVG Diagnostics
In House Testing ISO Accredited/ GTP Non-Participant Other Recognized Accreditation Out Sourced Testing
Plzen
CZ
CZ
Genomia s.r.o
HGTD Leadership Sponsor In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Participation Pending
Bad Kissingen, Bavaria
DE
DE
Laboklin Gmbh & Co. KG
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Participation Pending Any Patents Held Supporter
St. Kilda, Victoria
AU
AU
Spokane, Washington
US
US
Paw Print Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation Subsidiary Company
Wageningen
NL
NL
VHL Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing Supporter
Naas, Co. Kildare
IE
IE
Weatherbys Scientific
In House Testing ISO Accredited/LAB ISO Accredited/tests Non-Participant Other Recognized Accreditation Out Sourced Testing Participation Pending Supporter
Zagreb
HR
HR
Key Comment