ATP13A2 gene related symptoms and diseases
All the information presented here about the ATP13A2 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 ATP13A2 gene
Symptoms // Phenotype | % Cases |
---|---|
Supranuclear gaze palsy | Very Common - Between 80% and 100% cases |
Dysarthria | Very Common - Between 80% and 100% cases |
Cerebral cortical atrophy | Very Common - Between 80% and 100% cases |
Babinski sign | Very Common - Between 80% and 100% cases |
Dystonia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ATP13A2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hallucinations
- Dementia
- Hyperreflexia
- Cognitive impairment
- Cerebellar atrophy
- Postural instability
- Upgaze palsy
- Distal sensory impairment
And 103 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATP13A2 gene
Here you will find a list of rare diseases related to the ATP13A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
KUFOR-RAKEB SYNDROME
Alternate names
KUFOR-RAKEB SYNDROME Is also known as parkinson disease 9, autosomal recessive, juvenile-onset, park9, pallidopyramidal degeneration with supranuclear upgaze paresis and dementia, krppd
Description
Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment.
Most common symptoms of KUFOR-RAKEB SYNDROME
- Intellectual disability
- Seizures
- Ataxia
- Nystagmus
- Spasticity
More info about KUFOR-RAKEB SYNDROME
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78
Alternate names
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78 Is also known as spg78
Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78
- Strabismus
- Cognitive impairment
- Hyperreflexia
- Dysarthria
- Skeletal muscle atrophy
More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78
SOURCES: ORPHANET
ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS
Alternate names
ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS Is also known as juvenile parkinsonism-neuronal ceroid lipofuscinosis, cln12 disease
Description
Autosomal recessive spastic paraplegia-78 is an adult-onset neurodegenerative disorder characterized predominantly by spasticity and muscle weakness of the lower limbs, resulting in gait difficulties and loss of ambulation in some patients. Affected individuals also have cerebellar signs, such as dysarthria, oculomotor disturbances, and limb and gait ataxia; brain imaging shows cerebellar atrophy. Some patients may have mild cognitive impairment or frank dementia. The phenotype is highly variable (summary by Estrada-Cuzcano et al., 2017).Biallelic mutation in the ATP13A2 gene also causes Kufor-Rakeb syndrome (KRS ), a neurodegenerative disorder with overlapping features. Patients with KRS have earlier onset and prominent parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017).
Most common symptoms of ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS
- Ataxia
- Nystagmus
- Strabismus
- Muscle weakness
- Spasticity
More info about ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS
Search interest in ATP13A2
Potential gene panels for ATP13A2 gene
Epilepsy Advanced Sequencing and CNV Evaluation - Neuronal Ceroid Lipofuscinosis Panel
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 panelEpilepsy Advanced Sequencing and CNV Evaluation Panel
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 panelLysosomal Storage Disease Panel Panel
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 panelHereditary Spastic Paraplegia Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2
More info about this panelDystonia Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panelMovement Disorders Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
More info about this panelParkinson's Disease Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Parkinson's Disease that also includes the following genes: SLC6A3 SNCA TAF1 TH VPS35 FBXO7 PINK1 PARK7 LRRK2 CSF1R
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2
More info about this panelHereditary Spastic Paraplegia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1
More info about this panelNBIA Deletion/Duplication Analysis Panel
By Genetic Services Laboratory University of Chicago NBIA Deletion/Duplication Analysis that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelNBIA Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago NBIA Sequencing Panel that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelDystonia Exome Panel Panel
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 panelAtaxia Exome Panel Panel
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 panelCustomNext: Neuro Panel
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 panelNeurodevelopment-Expanded Panel
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 panelEpilepsyNext Panel
By Ambry Genetics EpilepsyNext that also includes the following genes: SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC2A1 SLC35A2 SLC6A1 SLC9A6 SMC1A
More info about this panelEpiRapid reflex EpilepsyNext Panel
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 panelATP13A2. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ATP13A2 gene.
More info about this panelParkinson disease 9 (PARK9, sequence analysis of ATP13A2 gene) Panel
By CGC Genetics
This panel specifically test the ATP13A2 gene.
More info about this panelParkinson disease (NGS panel for 10 genes) Panel
By CGC Genetics Parkinson disease (NGS panel for 10 genes) that also includes the following genes: SNCA VPS35 FBXO7 PINK1 DNAJC6 PARK7 LRRK2 ATP13A2 PRKN PLA2G6
More info about this panelParkinson disease (NGS panel for 33 genes) Panel
By CGC Genetics Parkinson disease (NGS panel for 33 genes) that also includes the following genes: SLC6A3 SNCA SNCAIP SNCB SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panelHereditary dementias (NGS panel for 28 genes) Panel
By CGC Genetics Hereditary dementias (NGS panel for 28 genes) that also includes the following genes: SNCA SNCB SORL1 TARDBP TIMM8A TUBA4A TYROBP UBQLN2 VCP CHCHD10
More info about this panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
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 panelNeurodegeneration with brain iron accumulation (NGS panel of 8 genes) Panel
By CGC Genetics Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) that also includes the following genes: PANK2 FA2H C19orf12 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
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 panelNeurodegeneration with brain iron accumulation (NGS panel of 8 genes) Panel
By CGC Genetics Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) that also includes the following genes: PANK2 FA2H C19orf12 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelNeuronal Ceroid Lipofuscinosis 12 via ATP13A2 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ATP13A2 gene.
More info about this panelComplex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8
More info about this panelHereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1
More info about this panelNeuronal Ceroid Lipofuscinoses (Batten Disease) Sequencing Panel with CNV Detection Panel
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 panelNeurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection that also includes the following genes: PANK2 NALCN FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL
More info about this panelParkinson Disease Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Parkinson Disease Sequencing Panel with CNV Detection that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 GIGYF2 UCHL1 VPS35 FBXO7 HTRA2
More info about this panelParkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
More info about this panelMental retardation - different panels Panel
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 panelNeurogenetic Disorders - panels Panel
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 panelEpileptic Encephalopathy Panel
By MGZ Medical Genetics Center Epileptic Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SGCE SLC2A1 SPTAN1 CDKL5 STXBP1 SYNGAP1
More info about this panelBrain Malformations / Neuronal Migration Disorders Panel
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel
By MGZ Medical Genetics Center Neurodegeneration with Brain Iron Accumulation (NBIA) that also includes the following genes: ATL1 SPAST PANK2 FA2H CP C19orf12 DCAF17 IBA57 WDR45 ATP13A2
More info about this panelEpilepsy Panel
By MGZ Medical Genetics Center Epilepsy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panelPARK9 Parkinsonism Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ATP13A2 gene.
More info about this panelAllNeuro panel Panel
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 panelParkinsons disease panel Panel
By Centogene AG - the Rare Disease Company Parkinsons disease panel that also includes the following genes: SLC6A3 SNCA SNCB SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel Panel
By CeGaT GmbH Neurodegeneration with Brain Iron Accumulation (NBIA) Panel that also includes the following genes: SCP2 REPS1 PANK2 FA2H CP C19orf12 DCAF17 SLC25A42 WDR45 COASY
More info about this panelNeuronal Ceroidlipofuscinosis (NCL) Panel Panel
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 panelHereditary Degenerative Syndromes Panel Panel
By CeGaT GmbH Hereditary Degenerative Syndromes Panel that also includes the following genes: ATXN2 ATXN7 SLC16A2 SLC25A15 SLC6A3 SMPD1 SUCLA2 TAF1 TBP TIMM8A
More info about this panelParkinson all Panel Panel
By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7
More info about this panelAtypical Parkinson syndrome Panel Panel
By CeGaT GmbH Atypical Parkinson syndrome Panel that also includes the following genes: ATXN2 SPG11 SYNJ1 TH FBXO7 DNAJC6 RAB39B ATP6AP2 ZFYVE26 SLC30A10
More info about this panelParkinson Syndrome, autosomal recessive Panel Panel
By CeGaT GmbH Parkinson Syndrome, autosomal recessive Panel that also includes the following genes: SYNJ1 FBXO7 PINK1 DNAJC6 PARK7 VPS13C SLC30A10 ATP13A2 PRKN PLA2G6
More info about this panelSingle gene testing ATP13A2 Panel
By CeGaT GmbH
This panel specifically test the ATP13A2 gene.
More info about this panelParkinson Disease Panel
By Asper Biogene Asper Biogene LLC Parkinson Disease that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35 FBXO7
More info about this panelNeurodegeneration with Brain Iron Accumulation Panel
By Asper Biogene Asper Biogene LLC Neurodegeneration with Brain Iron Accumulation that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelNGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) Panel
By BLOODGENETICS BLOODGENETICS NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel
By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel
By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication that also includes the following genes: SCP2 SQSTM1 KMT2B PANK2 TRIM32 VPS13A MECR SLC39A14 FA2H CP
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Panel
By NBIA Testing Center Oregon Health & Science University Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication that also includes the following genes: SQSTM1 PANK2 TRIM32 VPS13A SLC39A14 FA2H CP C19orf12 DCAF17 WDR45
More info about this panelInvitae Hereditary Parkinson's Disease and Parkinsonism Panel Panel
By Invitae Invitae Hereditary Parkinson's Disease and Parkinsonism Panel that also includes the following genes: SLC6A3 SNCA SPR TH VPS35 FBXO7 PINK1 DNAJC6 PARK7 LRRK2
More info about this panelInvitae Neurodegeneration with Brain Iron Accumulation Panel Panel
By Invitae Invitae Neurodegeneration with Brain Iron Accumulation Panel that also includes the following genes: SQSTM1 PANK2 CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL FUCA1
More info about this panelInvitae Comprehensive Lysosomal Storage Disorders Panel Panel
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 panelPARKINSON DISEASE Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases PARKINSON DISEASE that also includes the following genes: SNCA TAF1 VPS35 FBXO7 PINK1 PARK7 LRRK2 ATP13A2 PRKN PLA2G6
More info about this panelNeurodegeneration with Brain Iron Accumulation Disorders Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Neurodegeneration with Brain Iron Accumulation Disorders that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 ATP13A2 FTL PLA2G6
More info about this panelNeuronal Ceroid-Lipofuscinoses Panel
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 panelNGS panel - Parkinson Panel
By Genome Diagnostics VU University Medical Center NGS panel - Parkinson that also includes the following genes: ATXN2 SLC18A2 SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1
More info about this panelNGS panel - Neurodegeneration with brain iron accumulation Panel
By Genome Diagnostics VU University Medical Center NGS panel - Neurodegeneration with brain iron accumulation that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelEye Disorders: Comprehensive Sequencing Panel Panel
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 panelLysosomal Storage Disorders: Sequencing Panel Panel
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 panelDystonia: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH
More info about this panelLysosomal Disorders NGS Panel Panel
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 panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelParkinson-Alzheimer-Dementia NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS
More info about this panelATP13A2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATP13A2 gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
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 panelNCL and Progressive Myoclonic Epilepsy Panel Panel
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 panelLysosomal Disorders and Mucopolysaccharidosis Panel Panel
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 panelComprehensive Metabolism Panel Panel
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 panelParkinson Disease Panel Panel
By Blueprint Genetics Parkinson Disease Panel that also includes the following genes: SLC20A2 SLC6A3 SNCA SPR SYNJ1 TH VPS35 FBXO7 PINK1 DNAJC6
More info about this panelComprehensive Epilepsy Panel Panel
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 panelKufor-Rakeb syndrome Panel
By Bioarray
This panel specifically test the ATP13A2 gene.
More info about this panelParkinson Disease, Early Onset NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Parkinson Disease, Early Onset NGS and Deletion/Duplication Panel that also includes the following genes: SNCA FBXO7 PINK1 DNAJC6 PARK7 ATP13A2 GCH1 PRKN PLA2G6
More info about this panelNeurodegeneration with Brain Iron Accumulation NGS and Deletion/Duplication Panel Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Neurodegeneration with Brain Iron Accumulation NGS and Deletion/Duplication Panel that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 ATP13A2 FTL PLA2G6
More info about this panelATP13A2 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the ATP13A2 gene.
More info about this panelPARKINSON TYPE 9 (PARK9) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the ATP13A2 gene.
More info about this panelNEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA): NGS PANEL Panel
By Laboratorio de Genetica Clinica SL NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA): NGS PANEL that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelPARKINSON NGS PANEL Panel
By Laboratorio de Genetica Clinica SL PARKINSON NGS PANEL that also includes the following genes: SLC6A3 SMPD1 SNCA SYNJ1 UCHL1 VPS35 FBXO7 HTRA2 PINK1 DNAJC6
More info about this panelNEURONAL CEROID LIPOFUSCINOSIS NGS PANEL Panel
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 panelSPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP
More info about this panelParkinson Disease , Panel Massive Sequencing (NGS) 11 Genes Panel
By Reference Laboratory Genetics Parkinson Disease , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SLC6A3 SNCA TAF1 VPS35 FBXO7 PINK1 PARK7 LRRK2 ATP13A2 PRKN
More info about this panelNeurodegeneration with Brain Iron Accumulation (NBIA) , Panel Massive Sequencing (NGS) 10 Genes Panel
By Reference Laboratory Genetics Neurodegeneration with Brain Iron Accumulation (NBIA) , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
More info about this panelNeurodegeneration Associated to Pantothenate Kinase , Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Neurodegeneration Associated to Pantothenate Kinase , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 ATP13A2 FTL PLA2G6
More info about this panelParkinson Disease: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Parkinson Disease: gene sequencing panel that also includes the following genes: SLC6A3 SNCA TAF1 VPS35 FBXO7 PINK1 PARK7 LRRK2 ATP13A2 PRKN
More info about this panelNeurodegeneration with Brain Iron Accumulation Disorders: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Neurodegeneration with Brain Iron Accumulation Disorders: gene sequencing panel that also includes the following genes: PANK2 FA2H CP C19orf12 DCAF17 WDR45 COASY ATP13A2 FTL PLA2G6
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