CLN8 gene related symptoms and diseases
All the information presented here about the CLN8 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CLN8 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% cases |
| Nevus | Common - Between 50% and 80% cases |
| Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | Common - Between 50% and 80% cases |
| Increased neuronal autofluorescent lipopigment | Common - Between 50% and 80% cases |
| Intracellular accumulation of autofluorescent lipopigment storage material | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with CLN8 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Restlessness
- Focal impaired awareness seizure
- Seizures
- Psychosis
- Progressive visual loss
- Clumsiness
- Generalized tonic-clonic seizures
- Developmental regression
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CLN8 gene
Here you will find a list of rare diseases related to the CLN8. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CLN8 DISEASE
PROGRESSIVE EPILEPSY-INTELLECTUAL DISABILITY SYNDROME, FINNISH TYPE
Alternate names
PROGRESSIVE EPILEPSY-INTELLECTUAL DISABILITY SYNDROME, FINNISH TYPE Is also known as epmr, ncl, northern epilepsy variant, epilepsy, progressive, with mental retardation, neuronal ceroid lipofuscinosis, northern epilepsy variant, cln8 disease, northern epilepsy variant, northern epilepsy
Description
Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.
Most common symptoms of PROGRESSIVE EPILEPSY-INTELLECTUAL DISABILITY SYNDROME, FINNISH TYPE
- Intellectual disability
- Seizures
- Cerebellar atrophy
- Behavioral abnormality
- Cerebral atrophy
More info about PROGRESSIVE EPILEPSY-INTELLECTUAL DISABILITY SYNDROME, FINNISH TYPE
CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8
Description
The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment patterns observed most often in CLN8 comprise mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).
Most common symptoms of CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8
- Intellectual disability
- Seizures
- Global developmental delay
- Ataxia
- Delayed speech and language development
More info about CEROID LIPOFUSCINOSIS, NEURONAL, 8; CLN8
SOURCES: OMIM
Search interest in CLN8
Potential gene panels for CLN8 gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
More info about this panel United States.
Epilepsy Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panel United States.
NGS Neuronal Ceroid Lipofuscinosis Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Neuronal Ceroid Lipofuscinosis Panel that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 CTSD MFSD8 PPT1
More info about this panel United States.
NGS Epilepsy/Seizure Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Lysosomal Storage Disease Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1
More info about this panel United States.
Test for CLN8-Related Neuronal Ceroid-Lipofuscinosis Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the CLN8 gene.
More info about this panel Netherlands.
NCL Panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht NCL Panel that also includes the following genes: TPP1 CLN3 CLN5 CLN6 CLN8 CTSD MFSD8
More info about this panel Netherlands.
Childhood Epilepsy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Childhood Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SLC2A1 SLC9A6 CDKL5 SYN1 UBE3A CNTNAP2 CACNB4
More info about this panel United States.
Epilepsy/Seizure Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1
More info about this panel United States.
Infantile Epilepsy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Infantile Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1 CDKL5
More info about this panel United States.
Neuronal Ceroid-Lipofuscinoses Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Neuronal Ceroid-Lipofuscinoses Panel that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 CTSD CTSF MFSD8 GRN
More info about this panel United States.
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Lysosomal Storage Disease Panel Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel Argentina.
Comprehensive Epilepsy Panel Panel
United States.
By GeneDx Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 SYN1
More info about this panel United States.
Infantile Epilepsy Panel Panel
United States.
By GeneDx Infantile Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SLC2A1 SLC9A6 SPTAN1 CDKL5 STXBP1 TCF4
More info about this panel United States.
Childhood-Onset Epilepsy Panel Panel
United States.
By GeneDx Childhood-Onset Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SLC2A1 SLC9A6 CDKL5 SYN1 TCF4 UBE3A CNTNAP2
More info about this panel United States.
Progressive Myoclonic Epilepsy Panel Panel
United States.
By GeneDx Progressive Myoclonic Epilepsy Panel that also includes the following genes: DNAJC5 SCARB2 PRICKLE1 TPP1 CLN3 CLN5 CLN6 CLN8 NHLRC1 KCTD7
More info about this panel United States.
CLN8-Related Neuronal Ceroid-Lipofuscinosis Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
This panel specifically test the CLN8 gene.
More info about this panel Czech Republic.
CustomNext: Neuro Panel
United States.
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
Neurodevelopment-Expanded Panel
United States.
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
EpilepsyNext Panel
United States.
By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panel United States.
EpiRapid reflex EpilepsyNext Panel
United States.
By Ambry Genetics EpiRapid reflex EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panel United States.
CLN8. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CLN8 gene.
More info about this panel Spain.
CHOP Epilepsy Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC6A8 SPTAN1
More info about this panel United States.
CLN8-Related Neuronal Ceroid-Lipofuscinosis Panel
Portugal.
By CGC Genetics
This panel specifically test the CLN8 gene.
More info about this panel Portugal.
Neuronal ceroid lipofuscinosis 8 (sequence analysis of CLN8 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CLN8 gene.
More info about this panel Portugal.
Neuronal ceroid lipofuscinosis (NGS panel for 9 genes) Panel
Portugal.
By CGC Genetics Neuronal ceroid lipofuscinosis (NGS panel for 9 genes) that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 CTSD MFSD8 PPT1
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
EPMR, Epilepsy, progressive with mental retardation, CLN8 founder mutation analysis Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the CLN8 gene.
More info about this panel Poland.
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC2A1 SLC35A2 SLC9A6
More info about this panel United States.
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panel United States.
Neuronal Ceroid Lipofuscinosis 8 via CLN8 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CLN8 gene.
More info about this panel United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Neuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Neuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel with CNV Detection that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
More info about this panel United States.
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel Germany.
CLN8-Related Neuronal Ceroid-Lipofuscinosis Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the CLN8 gene.
More info about this panel Germany.
Metabolic disease with epilepsy panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Metabolic disease with epilepsy panel that also includes the following genes: SLC2A1 GPHN DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 CPT2 CTSD
More info about this panel Netherlands.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Ceroid lipofuscinosis, neuronal type 8 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CLN8 gene.
More info about this panel Germany.
Neuronal Ceroid Lipofuscinosis and Progressive Myoclonic Epilepsy Panel Panel
Germany.
By CeGaT GmbH Neuronal Ceroid Lipofuscinosis and Progressive Myoclonic Epilepsy Panel that also includes the following genes: DNAJC5 SCARB2 PRICKLE1 PRICKLE2 TPP1 CLN3 CLN5 CLN6 CLN8 NHLRC1
More info about this panel Germany.
Neuronal Ceroidlipofuscinosis (NCL) Panel Panel
Germany.
By CeGaT GmbH Neuronal Ceroidlipofuscinosis (NCL) Panel that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
More info about this panel Germany.
Single gene testing CLN8 Panel
Germany.
By CeGaT GmbH
This panel specifically test the CLN8 gene.
More info about this panel Germany.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
Lysosomal Storage Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Lysosomal Storage Disease that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel Estonia.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Neuronal ceroid lipofuscinosis panel Panel
United States.
By Molecular Vision Laboratory Neuronal ceroid lipofuscinosis panel that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 CTSD MFSD8 PPT1
More info about this panel United States.
CLN8 single gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the CLN8 gene.
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Invitae Epilepsy Panel Panel
United States.
By Invitae Invitae Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SGCE SLC2A1 SLC35A2 SLC6A1
More info about this panel United States.
Invitae Comprehensive Neuronal Ceroid Lipofuscinoses Panel Panel
United States.
By Invitae Invitae Comprehensive Neuronal Ceroid Lipofuscinoses Panel that also includes the following genes: TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD MFSD8 PPT1
More info about this panel United States.
Invitae Comprehensive Lysosomal Storage Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Lysosomal Storage Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel United States.
Neuronal Ceroid-Lipofuscinoses Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Neuronal Ceroid-Lipofuscinoses that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
More info about this panel Spain.
Eye Disorders: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Neuronal Ceroid-Lipofuscinoses: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neuronal Ceroid-Lipofuscinoses: Sequencing Panel that also includes the following genes: TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD MFSD8 GRN PPT1
More info about this panel United States.
Epilepsy and Seizure Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Lysosomal Storage Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3
More info about this panel United States.
Neurology: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panel United States.
Inherited Metabolic Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panel United States.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panel United States.
Eye Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Neuronal Ceroid-Lipofuscinosis, CLN8-Related (CLN8) Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the CLN8 gene.
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Lysosomal Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
More info about this panel United States.
Neuronal Ceroid Lipofuscinoses NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Neuronal Ceroid Lipofuscinoses NGS Panel that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD MFSD8 PPT1
More info about this panel United States.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
CLN8 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CLN8 gene.
More info about this panel United States.
Early-Onset Epileptic Encephalopathy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Early-Onset Epileptic Encephalopathy NGS Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC25A12
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
NCL and Progressive Myoclonic Epilepsy Panel Panel
Finland.
By Blueprint Genetics NCL and Progressive Myoclonic Epilepsy Panel that also includes the following genes: CERS1 DNAJC5 SCARB2 PRICKLE1 TPP1 CLN3 CLN5 CLN6 CLN8 FARS2
More info about this panel Finland.
Lysosomal Disorders and Mucopolysaccharidosis Panel Panel
Finland.
By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
Ceroid lipofuscinosis, neuronal, 8 Panel
Spain.
By Bioarray
This panel specifically test the CLN8 gene.
More info about this panel Spain.
NEURONAL CEROID LIPOFUSCINOSIS Panel
Spain.
By Laboratorio de Genetica Clinica SL NEURONAL CEROID LIPOFUSCINOSIS that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 CTSD MFSD8 PPT1
More info about this panel Spain.
NEURONAL CEROID LIPOFUSCINOSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL NEURONAL CEROID LIPOFUSCINOSIS NGS PANEL that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD CTSF MFSD8
More info about this panel Spain.
Neuronal Ceroid Lipofuscinoses Type 8 , Sequencing CLN8 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CLN8 gene.
More info about this panel Spain.
Neuronal Ceroid Lipofuscinoses, Panel Deletions-Duplications (MLPA) TPP1, PPT1, CLN3, CLN6, CLN8 Genes Panel
Spain.
By Reference Laboratory Genetics Neuronal Ceroid Lipofuscinoses, Panel Deletions-Duplications (MLPA) TPP1, PPT1, CLN3, CLN6, CLN8 Genes that also includes the following genes: TPP1 CLN3 CLN6 CLN8 PPT1
More info about this panel Spain.
Neuronal Ceroid Lipofuscinoses , Panel Massive Sequencing (NGS) 11 Genes Panel
Spain.
By Reference Laboratory Genetics Neuronal Ceroid Lipofuscinoses , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: DNAJC5 TPP1 CLN3 CLN5 CLN6 CLN8 KCTD7 CTSD MFSD8 GRN
More info about this panel Spain.
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
Spain.
By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5
More info about this panel Spain.
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
Spain.
By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1
More info about this panel Spain.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ITIH4 PQBP1 SLC12A5 ACP5 KLK4