PANK2 gene related symptoms and diseases

All the information presented here about the PANK2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PANK2 gene

Symptoms // Phenotype % Cases
Blindness Very Common - Between 80% and 100% cases
Dysphagia Very Common - Between 80% and 100% cases
Spasticity Very Common - Between 80% and 100% cases
Dysarthria Very Common - Between 80% and 100% cases
Pigmentary retinopathy Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with PANK2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Rod-cone dystrophy
  • Gait disturbance
  • Retinopathy
  • Hyperreflexia
  • Eye of the tiger anomaly of globus pallidus
  • Cognitive impairment
  • Frequent falls
  • Not very common - Between 30% and 50% cases

  • Nyctalopia

And 110 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PANK2 gene

Here you will find a list of rare diseases related to the PANK2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1


Alternate names

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 Is also known as hallervorden-spatz disease, pkan, pkan neuroaxonal dystrophy, juvenile-onset, pantothenate kinase-associated neurodegeneration

Description

Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by Gregory et al., 2009).Panthothenate kinase-associated neurodegeneration has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI (Hayflick et al., 2003; Pellecchia et al., 2005).Kumar et al. (2006) noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene.Gregory et al. (2009) provided a detailed review of the different forms of neurodegeneration with brain iron accumulation.In addition, some patients with Kufor-Rakeb syndrome (OMIM ), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia. Genetic Heterogeneity of Neurodegeneration with Brain Iron AccumulationNeurodegeneration with brain iron accumulation is an umbrella term that encompasses a group of genetically heterogeneous disorders. See also NBIA2A (OMIM ) and NBIA2B (OMIM ), both caused by mutation in the PLA2G6 gene (OMIM ); NBIA3 (OMIM ), caused by mutation in the FTL gene (OMIM ); NBIA4 (OMIM ), caused by mutation in the C19ORF12 gene (OMIM ); NBIA5 (OMIM ), caused by mutation in the WDR45 gene (OMIM ); NBIA6 (OMIM ), caused by mutation in the COASY gene (OMIM ); NBIA7 (OMIM ), caused by mutation in the REPS1 gene (OMIM ); and NBIA8 (OMIM ), caused by mutation in the CRAT gene (OMIM ).See review of Schneider and Bhatia (2012) on syndromes of neurodegeneration with brain iron accumulation, including Kufor-Rakeb disease (OMIM ) and aceruloplasminemia (OMIM ).

Most common symptoms of NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Failure to thrive


More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1

SOURCES: OMIM ORPHANET

HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION


Alternate names

HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION Is also known as harp syndrome

Most common symptoms of HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION

  • Spasticity
  • Dysarthria
  • Dysphagia
  • Blindness
  • Dystonia


More info about HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION

SOURCES: ORPHANET OMIM MESH

CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION


Alternate names

CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, classic form, nbia1, classic form, pkan, classic form

Most common symptoms of CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

  • Seizures
  • Global developmental delay
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


More info about CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

SOURCES: ORPHANET

ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION


Alternate names

ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, atypical form, pkan, atypical form, nbia1, atypical form

Most common symptoms of ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Optic atrophy


More info about ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

SOURCES: ORPHANET


Potential gene panels for PANK2 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

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

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

Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University

This panel specifically test the PANK2 gene.

More info about this panel

Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Sequencing and Deletion/Duplication Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University

This panel specifically test the PANK2 gene.

More info about this panel

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

Dystonia Panel

United States.

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 panel

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

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

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

PANK2 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the PANK2 gene.

More info about this panel

PANK2 deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the PANK2 gene.

More info about this panel

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

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

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

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

Neurodegeneration with brain iron accumulation type 1 Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the PANK2 gene.

More info about this panel

PANK2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PANK2 gene.

More info about this panel

PANK2. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PANK2 gene.

More info about this panel

Neurodegeneration with brain iron accumulation 1 (NBIA1, sequence analysis of PANK2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PANK2 gene.

More info about this panel

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

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

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

Pantothenate Kinase-Associated Neurodegeneration Panel

United Kingdom.

By Mersey Regional Genetics Laboratories Liverpool Women's Hospital

This panel specifically test the PANK2 gene.

More info about this panel

Hallorverden - Spatz disease Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the PANK2 gene.

More info about this panel

Pantothenate Kinase-Associated Neurodegeneration Panel

Belgium.

By Centre de Genetique Humaine Institut de Pathologie et de Genetique

This panel specifically test the PANK2 gene.

More info about this panel

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

Pantothenate Kinase-Associated Neurodegeneration (PKAN, Hallervorden-Spatz Disease) via PANK2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PANK2 gene.

More info about this panel

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

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

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

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

Epilepsy and Mitochondrial Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Epilepsy and Mitochondrial Encephalopathy that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

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

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

Mitochondrial Encephalopathy Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Encephalopathy that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC25A12 SLC25A3

More info about this panel

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

Pantothenate Kinase-Associated Neurodegeneration Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the PANK2 gene.

More info about this panel

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

More info about this panel

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

Pantothenate kinase-associated neurodegeneration Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PANK2 gene.

More info about this panel

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

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

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

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

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Neuroacanthocytosis Panel Panel

Germany.

By CeGaT GmbH Neuroacanthocytosis Panel that also includes the following genes: XK JPH3 PANK2 VPS13A

More info about this panel

Basal ganglia calcification Panel Panel

Germany.

By CeGaT GmbH Basal ganglia calcification Panel that also includes the following genes: SLC20A2 BRAF TBCE TREX1 TYROBP XPR1 CA2 PANK2 SAMHD1 TREM2

More info about this panel

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

Single gene testing PANK2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the PANK2 gene.

More info about this panel

Pantothenate Kinase-Associated Neurodegeneration (PKAN, NBIA1, PANK2) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PANK2 gene.

More info about this panel

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

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

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

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

Pantothenate kinase-associated neurodegeneration, PANK2 gene, sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the PANK2 gene.

More info about this panel

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

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

Hallervorden-Spatz Syndrom Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PANK2 gene.

More info about this panel

HARP syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PANK2 gene.

More info about this panel

Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Sequencing and Deletion/Duplication Panel

United States.

By NBIA Testing Center Oregon Health & Science University

This panel specifically test the PANK2 gene.

More info about this panel

Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Deletion/Duplication Panel

United States.

By NBIA Testing Center Oregon Health & Science University

This panel specifically test the PANK2 gene.

More info about this panel

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

Pantothenate Kinase Associated Neurodegeneration (PKAN), PANK2, Sequencing Panel

United States.

By NBIA Testing Center Oregon Health & Science University

This panel specifically test the PANK2 gene.

More info about this panel

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

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

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

Hallervorden-Spatz Syndrom Panel

Slovakia.

By MedGene

This panel specifically test the PANK2 gene.

More info about this panel

HARP syndrome Panel

Slovakia.

By MedGene

This panel specifically test the PANK2 gene.

More info about this panel

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

Invitae Treatable Neurometabolic Disorders Panel Panel

United States.

By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2

More info about this panel

PANK2: PANK2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PANK2 gene.

More info about this panel

PANK2: PANK2 gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PANK2 gene.

More info about this panel

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

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

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

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

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

Eye Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

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

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

PANK2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PANK2 gene.

More info about this panel

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

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Pantothenate-kinase-associated neurodegeneration Panel

Spain.

By Bioarray

This panel specifically test the PANK2 gene.

More info about this panel

Pantothenate-kinase-associated neurodegeneration Panel

Spain.

By Bioarray

This panel specifically test the PANK2 gene.

More info about this panel

PANK2 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 PANK2 gene.

More info about this panel

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

Neurodegeneration with Brain Iron Accumulation (PANK2) Targeted Testing Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children

This panel specifically test the PANK2 gene.

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PANTOTHENATE KINASE ASSOCIATED NEURODEGENERATION (HALLERVORDEN-SPATZ DISEASE) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PANK2 gene.

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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

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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

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HARP SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the PANK2 gene.

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Neurodegeneration Associated to Pantothenate Kinase , Sequencing PANK2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PANK2 gene.

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Neurodegeneration Associated to Pantothenate Kinase , Deletions-Duplications (MLPA) PANK2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PANK2 gene.

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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

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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

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

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

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Pantothenate Kinase-Associated Neurodegeneration: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the PANK2 gene.

More info about this panel

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


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