PLA2G6 gene related symptoms and diseases
All the information presented here about the PLA2G6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PLA2G6 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Spasticity | Very Common - Between 80% and 100% cases |
| Neurodegeneration | Very Common - Between 80% and 100% cases |
| Mental deterioration | Very Common - Between 80% and 100% cases |
| Dystonia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PLA2G6 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cerebral atrophy
- Developmental regression
- Global developmental delay
- Unsteady gait
- Global brain atrophy
- Neurofibrillary tangles
- Optic atrophy
- Muscular hypotonia of the trunk
And 119 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PLA2G6 gene
Here you will find a list of rare diseases related to the PLA2G6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ADULT-ONSET DYSTONIA-PARKINSONISM
Alternate names
ADULT-ONSET DYSTONIA-PARKINSONISM Is also known as dystonia-parkinsonism, paisan-ruiz type, dystonia-parkinsonism, adult-onset, pla2g6-related dystonia-parkinsonism, park14
Description
Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
Most common symptoms of ADULT-ONSET DYSTONIA-PARKINSONISM
- Seizures
- Global developmental delay
- Spasticity
- Hyperreflexia
- Dysarthria
More info about ADULT-ONSET DYSTONIA-PARKINSONISM
INFANTILE NEUROAXONAL DYSTROPHY
Alternate names
INFANTILE NEUROAXONAL DYSTROPHY Is also known as inad, neuroaxonal dystrophy, atypical, seitelberger disease, neurodegeneration with brain iron accumulation, pla2g6-related, inad1, phospholipase a2-associated neurodegeneration, plan
Description
Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.
Most common symptoms of INFANTILE NEUROAXONAL DYSTROPHY
- Seizures
- Generalized hypotonia
- Ataxia
- Nystagmus
- Strabismus
More info about INFANTILE NEUROAXONAL DYSTROPHY
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A
Alternate names
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad, neurodegeneration, pla2g6-associated, neuroaxonal dystrophy, infantile, seitelberger disease, inad1, plan
Description
Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).
Most common symptoms of NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A
SOURCES: OMIM
Search interest in PLA2G6
Potential gene panels for PLA2G6 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 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.
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel
United States.
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders that also includes the following genes: SYNGAP1 TBX1 TSC1 TSC2 SETBP1 PANK2 ADGRV1 ATP6V0A2 MAGI2 VPS13A
More info about this panel United States.
Hereditary Spastic Paraplegia Panel Panel
United States.
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 panel United States.
Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Sequencing and Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the PLA2G6 gene.
More info about this panel United States.
Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Deletion/Duplication Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the PLA2G6 gene.
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel
United States.
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 panel United States.
Movement Disorders Panel Panel
United States.
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 panel United States.
Parkinson's Disease Panel
United States.
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 panel United States.
Infantile Neuroaxonal Dystrophy, PLA2G6, Sequencing Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University
This panel specifically test the PLA2G6 gene.
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel
United States.
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 panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Panel
United States.
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 panel United States.
PLA2G6 sequencing Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the PLA2G6 gene.
More info about this panel United States.
PLA2G6 deletion/duplication analysis Panel
United States.
By Genetic Services Laboratory University of Chicago
This panel specifically test the PLA2G6 gene.
More info about this panel United States.
NBIA Deletion/Duplication Analysis Panel
United States.
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 panel United States.
NBIA Sequencing Panel Panel
United States.
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 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.
Neurodegeneration with brain iron accumulation type 2 Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the PLA2G6 gene.
More info about this panel Switzerland.
PLA2G6. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PLA2G6 gene.
More info about this panel Spain.
PLA2G6. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PLA2G6 gene.
More info about this panel Spain.
PLA2G6. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PLA2G6 gene.
More info about this panel Spain.
Infantile neuroaxonal dystrophy 1 (sequence analysis of PLA2G6 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PLA2G6 gene.
More info about this panel Portugal.
Neurodegeneration with Brain Iron Accumulation (sequence analysis of PLA2G6 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PLA2G6 gene.
More info about this panel Portugal.
Parkinson disease 14 (sequence analysis of PLA2G6 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PLA2G6 gene.
More info about this panel Portugal.
Neurodegeneration with Brain Iron Accumulation 2A/2B (NBIA2A/2B, deletion/duplication analysis of PLA2G6 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PLA2G6 gene.
More info about this panel Portugal.
Parkinson disease (NGS panel for 10 genes) Panel
Portugal.
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 panel Portugal.
Parkinson disease (NGS panel for 33 genes) Panel
Portugal.
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 panel Portugal.
Dystonia (NGS panel for 43 genes) Panel
Portugal.
By CGC Genetics Dystonia (NGS panel for 43 genes) that also includes the following genes: SGCE SLC2A1 SLC6A3 SMPD1 SPR TAF1 TH TIMM8A ACTB CACNA1B
More info about this panel Portugal.
Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) Panel
Portugal.
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 panel Portugal.
Neurodegeneration with brain iron accumulation (NGS panel of 8 genes) Panel
Portugal.
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 panel Portugal.
Infantile Neuroaxonal Dystrophy Panel
United Kingdom.
By Mersey Regional Genetics Laboratories Liverpool Women's Hospital
This panel specifically test the PLA2G6 gene.
More info about this panel United Kingdom.
PLA2G6-Associated Neuroderation, Infantile Neuroaxonal Dystrophy and Parkinson Disease via PLA2G6 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PLA2G6 gene.
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Parkinson Disease Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
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.
Epileptic Encephalopathy Panel
Germany.
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 panel Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
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 panel Germany.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel
Germany.
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 panel Germany.
Epilepsy Panel
Germany.
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 panel Germany.
PARK14 Parkinsonism Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PLA2G6 gene.
More info about this panel Germany.
Infantile neuroaxonal dystrophy type I Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PLA2G6 gene.
More info about this panel Germany.
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.
Parkinsons disease panel Panel
Germany.
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 panel Germany.
Selected Genetic Syndromes with Seizures Panel Panel
Germany.
By CeGaT GmbH Selected Genetic Syndromes with Seizures Panel that also includes the following genes: SMARCA2 MED12 TSC1 TSC2 KDM6A NSD1 ZEB2 VPS13A PIGO GNE
More info about this panel Germany.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel Panel
Germany.
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 panel Germany.
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panel Germany.
Hereditary Degenerative Syndromes Panel Panel
Germany.
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 panel Germany.
Parkinson all Panel Panel
Germany.
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 panel Germany.
Ataxia and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panel Germany.
Atypical Parkinson syndrome Panel Panel
Germany.
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 panel Germany.
Parkinson Dystonia Panel Panel
Germany.
By CeGaT GmbH Parkinson Dystonia Panel that also includes the following genes: SLC6A3 SPR TAF1 TH SLC30A10 GCH1 ATP1A3 PLA2G6 PRKRA
More info about this panel Germany.
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panel Germany.
Parkinson Syndrome, autosomal recessive Panel Panel
Germany.
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 panel Germany.
Dystonia All Panel Panel
Germany.
By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2
More info about this panel Germany.
Single gene testing PLA2G6 Panel
Germany.
By CeGaT GmbH
This panel specifically test the PLA2G6 gene.
More info about this panel Germany.
Ataxia, autosomal recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Ataxia, autosomal recessive and X-linked Panel that also includes the following genes: SACS SLC9A1 SPG7 SPTBN2 STUB1 TTPA WWOX ATP8A2 CA8 SNX14
More info about this panel Germany.
Dystonia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Dystonia that also includes the following genes: SGCE SLC25A1 SLC2A1 SLC6A3 SPR TAF1 TBCE TH TIMM8A ACTB
More info about this panel Estonia.
Parkinson Disease Panel
Estonia.
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 panel Estonia.
Neurodegeneration with Brain Iron Accumulation Panel
Estonia.
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 panel Estonia.
NGS Panel for Neurodegeneration with Brain Iron Accumulation Disorders (NBIA) Panel
Spain.
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 panel Spain.
Karak syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PLA2G6 gene.
More info about this panel Austria.
Neuroaxonal dystrophy, infantile 1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PLA2G6 gene.
More info about this panel Austria.
Neurodegeneration with brain iron accumulation 2B Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PLA2G6 gene.
More info about this panel Austria.
Parkinson disease 14 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PLA2G6 gene.
More info about this panel Austria.
Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Deletion/Duplication Panel
United States.
By NBIA Testing Center Oregon Health & Science University
This panel specifically test the PLA2G6 gene.
More info about this panel United States.
Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Sequencing and Deletion/Duplication Panel
United States.
By NBIA Testing Center Oregon Health & Science University
This panel specifically test the PLA2G6 gene.
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing Panel
United States.
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 panel United States.
Infantile Neuroaxonal Dystrophy (INAD), PLA2G6, Sequencing Panel
United States.
By NBIA Testing Center Oregon Health & Science University
This panel specifically test the PLA2G6 gene.
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication Panel
United States.
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 panel United States.
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication Panel
United States.
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 panel United States.
Karak syndrome Panel
Slovakia.
By MedGene
This panel specifically test the PLA2G6 gene.
More info about this panel Slovakia.
Neuroaxonal dystrophy, infantile 1 Panel
Slovakia.
By MedGene
This panel specifically test the PLA2G6 gene.
More info about this panel Slovakia.
Neurodegeneration with brain iron accumulation 2B Panel
Slovakia.
By MedGene
This panel specifically test the PLA2G6 gene.
More info about this panel Slovakia.
Parkinson disease 14 Panel
Slovakia.
By MedGene
This panel specifically test the PLA2G6 gene.
More info about this panel Slovakia.
Invitae Neurodegeneration with Brain Iron Accumulation Panel Panel
United States.
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 panel United States.
Infantile neuroaxonal dystrophy: PLA2G6 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PLA2G6 gene.
More info about this panel Spain.
Infantile neuroaxonal dystrophy: PLA2G6 gene deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PLA2G6 gene.
More info about this panel Spain.
PARKINSON DISEASE Panel
Spain.
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 panel Spain.
DYSTONIA Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DYSTONIA that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3
More info about this panel Spain.
Neurodegeneration with Brain Iron Accumulation Disorders Panel
Spain.
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 panel Spain.
NGS panel - Parkinson Panel
Netherlands.
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 panel Netherlands.
NGS panel - Neurodegeneration with brain iron accumulation Panel
Netherlands.
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 panel Netherlands.
Dystonia: Sequencing Panel Panel
United States.
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 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.
Intellectual Disability NGS Panel Panel
United States.
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 panel United States.
Parkinson-Alzheimer-Dementia NGS Panel Panel
United States.
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 panel United States.
PLA2G6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PLA2G6 gene.
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.
Parkinson Disease Panel Panel
Finland.
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 panel Finland.
Adult-onset dystonia-parkinsonism Panel
Spain.
By Bioarray
This panel specifically test the PLA2G6 gene.
More info about this panel Spain.
Infantile neuroaxonal dystrophy Panel
Spain.
By Bioarray
This panel specifically test the PLA2G6 gene.
More info about this panel Spain.
Parkinson Disease, Early Onset NGS and Deletion/Duplication Panel Panel
United States.
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 panel United States.
PLA2G6 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the PLA2G6 gene.
More info about this panel United States.
Neurodegeneration with Brain Iron Accumulation NGS and Deletion/Duplication Panel Panel
United States.
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 panel United States.
INFANTILE NEUROAXONAL DYSTROPHY (INFANTILE NEUROAXONAL DYSTROPHY) Panel
Spain.
By Laboratorio de Genetica Clinica SL INFANTILE NEUROAXONAL DYSTROPHY (INFANTILE NEUROAXONAL DYSTROPHY) that also includes the following genes: SOX3 PLA2G6
More info about this panel Spain.
PLA2G6-RELATED NEURODEGENERATION Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the PLA2G6 gene.
More info about this panel Spain.
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION (NBIA): NGS PANEL Panel
Spain.
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 panel Spain.
PARKINSON NGS PANEL Panel
Spain.
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 panel Spain.
DYSTONIAS (DYT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DYSTONIAS (DYT) NGS PANEL that also includes the following genes: SGCE SLC2A1 SLC6A3 SPR TH ACTB ANO3 PANK2 CIZ1 TUBB4A
More info about this panel Spain.
PARK14 Parkinson Panel
Canada.
By LifeLabs Genetics
This panel specifically test the PLA2G6 gene.
More info about this panel Canada.
Infantile Neuroaxonal Dystrophy , Sequencing PLA2G6 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PLA2G6 gene.
More info about this panel Spain.
Infantile Neuroaxonal Distrophy , Deletions-Duplications (MLPA) PLA2G6 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PLA2G6 gene.
More info about this panel Spain.
Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes Panel
Spain.
By Reference Laboratory Genetics Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: SGCE SLC2A1 SPR TAF1 TH PANK2 THAP1 TOR1A GCH1 ATP1A3
More info about this panel Spain.
Parkinson Disease , Panel Massive Sequencing (NGS) 11 Genes Panel
Spain.
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 panel Spain.
Neurodegeneration with Brain Iron Accumulation (NBIA) , Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
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 panel Spain.
Neurodegeneration Associated to Pantothenate Kinase , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
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 panel Spain.
PLA2G6-Associated Neurodegeneration: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the PLA2G6 gene.
More info about this panel Canada.
Neurodegeneration with Brain Iron Accumulation Disorders: gene sequencing panel Panel
Canada.
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
More info about this panel Canada.
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