ARSA gene related symptoms and diseases
All the information presented here about the ARSA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ARSA gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Bilateral sensorineural hearing impairment | Very Common - Between 80% and 100% cases |
Progressive gait ataxia | Very Common - Between 80% and 100% cases |
Delusions | Very Common - Between 80% and 100% cases |
Increased CSF protein | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ARSA gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormality of visual evoked potentials
- Loss of speech
- Progressive peripheral neuropathy
- Emotional lability
- Decreased nerve conduction velocity
- EMG: chronic denervation signs
- Leukodystrophy
- Hallucinations
And 71 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ARSA gene
Here you will find a list of rare diseases related to the ARSA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
METACHROMATIC LEUKODYSTROPHY, ADULT FORM
Alternate names
METACHROMATIC LEUKODYSTROPHY, ADULT FORM Is also known as arylsulfatase a deficiency, adult form, mld, adult form
Most common symptoms of METACHROMATIC LEUKODYSTROPHY, ADULT FORM
- Seizures
- Generalized hypotonia
- Muscle weakness
- Spasticity
- Dysarthria
More info about METACHROMATIC LEUKODYSTROPHY, ADULT FORM
SOURCES: ORPHANET
METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM
Alternate names
METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM Is also known as arylsulfatase a deficiency, juvenile form, mld, juvenile form
Most common symptoms of METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM
- Seizures
- Generalized hypotonia
- Muscle weakness
- Spasticity
- Dysarthria
More info about METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM
SOURCES: ORPHANET
METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM
Alternate names
METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM Is also known as sulfatide lipidosis, arsa deficiency, mld, late infantile form, arylsulfatase a deficiency, cerebroside sulfatase deficiency, metachromatic leukoencephalopathy, arylsulfatase a deficiency, late infantile form, cerebral sclerosis, diffuse, metachromatic form
Description
The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency; and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency (OMIM ) and multiple sulfatase deficiency or juvenile sulfatidosis (OMIM ), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy.
Most common symptoms of METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM
- Intellectual disability
- Seizures
- Generalized hypotonia
- Ataxia
- Muscle weakness
More info about METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM
Search interest in ARSA
Potential gene panels for ARSA gene
ARSA Sequence Analysis Panel
![](/img/flags/United-states.png)
By Baylor Miraca Genetics Laboratories
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/United-states.png)
ARSA Sequence Analysis (Familial Mutation/Variant Analysis) Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/United-states.png)
ARSA Sequence Analysis (Prenatal Diagnosis) Panel
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By Baylor Miraca Genetics Laboratories
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/United-states.png)
GeneAware Complete Panel Version 2 (Female) Panel
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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![](/img/flags/United-states.png)
GeneAware Complete Panel Version 2 (Male) Panel
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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![](/img/flags/United-states.png)
ARSA DNA Sequencing Test Panel
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By Athena Diagnostics Inc
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/United-states.png)
Lysosomal Storage Disease Panel Panel
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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![](/img/flags/United-states.png)
Dystonia Panel
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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![](/img/flags/United-states.png)
Movement Disorders Panel Panel
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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![](/img/flags/United-states.png)
Dystonia Exome Panel Panel
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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![](/img/flags/United-states.png)
Ataxia Exome Panel Panel
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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![](/img/flags/United-states.png)
Arylsulfatase A Deficiency Panel
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By Molecular Genetics Columbia University
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/United-states.png)
Lysosomal Storage Disease Panel Panel
![](/img/flags/Argentina.png.pagespeed.ce.A5m3fGLcik.png)
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![](/img/flags/Argentina.png.pagespeed.ce.A5m3fGLcik.png)
ARSA Gene Sequencing Panel
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By GeneDx
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/United-states.png)
Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel Panel
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By GeneDx Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel that also includes the following genes: BTD SPR TH MMACHC CYP27A1 GALC GBE1 GCH1 ABCD1 ARG1
More info about this panel![](/img/flags/United-states.png)
Arylsulfatase A Deficiency Panel
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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 ARSA gene.
More info about this panel![](/img/flags/Czech-republic.png)
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel
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By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
Metachromatic leukodystrophy Panel
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By Human Genetics University Hospital Bern
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Switzerland.png.pagespeed.ce.J0yNRX_kke.png)
ARSA. Complete sequencing Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
ARSA. Detection of the mutations c.459 1G>A, c.1204 1G>A, p.Pro426Leu and p.Ile179Ser by sequencing Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Metachromatic leukodystrophy (sequence analysis of ARSA gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Dystonia (NGS panel for 43 genes) Panel
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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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
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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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Metachromatic leukodystrophy (deletion/duplication analysis of ARSA gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
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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![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Metachromatic leukodystrophy (deletion/duplication analysis of ARSA gene) Panel
![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
By CGC Genetics
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Metachromatic leukodystrophy Panel
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By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/India.png.pagespeed.ce._Ki-ExtRwz.png)
Metachromatic Leukodystrophy Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Metachromatic Leukodystrophy Sequencing Panel with CNV Detection that also includes the following genes: ARSA PSAP
More info about this panel![](/img/flags/United-states.png)
Metachromatic Leukodystrophy via ARSA Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/United-states.png)
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
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By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panel![](/img/flags/United-states.png)
Neurogenetic Disorders - panels Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Metachromatic Leukodystrophy Panel Panel
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By FirmaLab Metachromatic Leukodystrophy Panel that also includes the following genes: ARSA PSAP
More info about this panel![](/img/flags/United-states.png)
Arylsulfatase A (ARSA) deficiency Panel
![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
AllNeuro panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
CentoICU platinum plus Panel
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By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
New Born testing (CentoICU) Panel
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By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Metachromatic Leukodystrophy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By Centogene AG - the Rare Disease Company
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Leukodystrophy / Leukencephalopathy Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Leukodystrophy / Leukencephalopathy Panel that also includes the following genes: AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1 L2HGDH
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Lysosomal Disorders Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Lysosomal Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 SUMF1 GNPTG HGSNAT GNPTAB AGA
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Leukodystrophy and Leukoencephalopathy Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1 L2HGDH
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Hereditary Degenerative Syndromes Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Lysosomal Disorders Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Lysosomal Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 SUMF1 GNPTG HGSNAT GNPTAB AGA
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Ataxia and differential diagnoses Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Dystonia All Panel Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Single gene testing ARSA Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Leukodystrophy / Leukoencephalopathy Panel Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By CeGaT GmbH Leukodystrophy / Leukoencephalopathy Panel that also includes the following genes: SCP2 AIMP1 SLC16A2 SLC17A5 SOX10 ACOX1 TREX1 TYROBP VPS11 SAMHD1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Arylsulfatase A Deficiency, ARSA Panel
![](/img/flags/Israel.png.pagespeed.ce.KciyoqIVu_.png)
By GGA - Galil Genetic Analysis
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Israel.png.pagespeed.ce.KciyoqIVu_.png)
Metachromatic leukodystrophy Panel
![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Charcot-Marie-Tooth Disease Panel
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By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Dystonia Panel
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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![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Lysosomal Storage Disease Panel
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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![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Leukodystrophy and Leukoencephalopathy Panel
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By Asper Biogene Asper Biogene LLC Leukodystrophy and Leukoencephalopathy that also includes the following genes: SCP2 AIMP1 SOX10 TREX1 SAMHD1 MLC1 GJC2 RNASEH2A CLCN2 SUMF1
More info about this panel![](/img/flags/Estonia.png.pagespeed.ce.3UWOPDUuUk.png)
Arylsulfatase A Deficiency, ARSA sequencing Panel
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By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/United-states.png)
Metachromatic leukodystrophy Panel
![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
By Praxis fuer Humangenetik Wien
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
ARSA Panel
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By Division Human Genetics Medical University Innsbruck
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
Family Prep Screen Panel
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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![](/img/flags/United-states.png)
qCarrier Plus Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Metachromatic leukodystrophy Panel
![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
By MedGene
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/xSlovakia.png.pagespeed.ic.MfIjo-PKfU.png)
Invitae Metachromatic Leukodystrophy Panel Panel
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By Invitae Invitae Metachromatic Leukodystrophy Panel that also includes the following genes: SUMF1 ARSA PSAP
More info about this panel![](/img/flags/United-states.png)
Invitae Comprehensive Lysosomal Storage Disorders Panel Panel
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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![](/img/flags/United-states.png)
Invitae Treatable Neurometabolic Disorders Panel Panel
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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![](/img/flags/United-states.png)
Metachromatic leukodystrophy: ARSA gene sequence analysis Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Leukodistrophy Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Leukodistrophy that also includes the following genes: SCP2 AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Metachromatic Leukodystrophy: ARSA Full Gene Sequencing Panel
![](/img/flags/United-states.png)
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/United-states.png)
Metachromatic Leukodystrophy: ARSA Gene Deletion/Duplication Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/United-states.png)
Lysosomal Storage Disorders: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Inherited Metabolic Disorders: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
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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![](/img/flags/United-states.png)
Dystonia: Sequencing Panel Panel
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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![](/img/flags/United-states.png)
ARSA Gene, Full Gene Analysis Panel
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By Mayo Clinic Genetic Testing Laboratories Mayo Clinic
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/United-states.png)
Metachromatic Leukodystrophy (ARSA) Panel
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By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/United-states.png)
Inheritest NGS, Comprehensive Panel
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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![](/img/flags/United-states.png)
Epilepsy NGS Panel Panel
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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![](/img/flags/United-states.png)
Leukoencephalopathy NGS Panel Panel
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By Fulgent Genetics Fulgent Genetics Leukoencephalopathy NGS Panel that also includes the following genes: SCP2 SLC25A12 ACOX1 MLC1 GJC2 ABAT CSF1R FAM126A DARS2 HEPACAM
More info about this panel![](/img/flags/United-states.png)
Lysosomal Disorders NGS Panel Panel
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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![](/img/flags/United-states.png)
ARSA Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/United-states.png)
Comprehensive Epilepsy NGS Panel Panel
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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![](/img/flags/United-states.png)
Lysosomal Disorders and Mucopolysaccharidosis Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Metabolism Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Leukodystrophy and Leukoencephalopathy Panel Panel
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By Blueprint Genetics Leukodystrophy and Leukoencephalopathy Panel that also includes the following genes: SCO1 AIMP1 SOX10 TREX1 GFM1 NDUFAF5 SAMHD1 NFU1 MRPL44 MLC1
More info about this panel![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Comprehensive Epilepsy Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Metachromatic leukodystrophy Panel
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By Bioarray
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Rapid microarray (CGH and SNP) Panel
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By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel![](/img/flags/United-states.png)
High-Resolution Rapid Microarray (CGH and SNP) Panel
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By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel![](/img/flags/United-states.png)
METACHROMATIC LEUKODYSTROPHY (ARYLSULFATASE A DEFICIENCY) Panel
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By Laboratorio de Genetica Clinica SL METACHROMATIC LEUKODYSTROPHY (ARYLSULFATASE A DEFICIENCY) that also includes the following genes: ARSA PSAP
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Metachromatic Leukodystrophy, Sequencing ARSA Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the ARSA gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel
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By Reference Laboratory Genetics Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes that also includes the following genes: AIMP1 SDHA SLC16A2 SOX10 TREX1 TYROBP BEST1 SAMHD1 MLC1 GJC2
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
planTrue Extended Panel
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By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel![](/img/flags/United-states.png)
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
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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![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
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