ABCD1 gene related symptoms and diseases
All the information presented here about the ABCD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ABCD1 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Uncommon - Between 30% and 50% cases |
Personality changes | Uncommon - Between 30% and 50% cases |
Axonal degeneration | Uncommon - Between 30% and 50% cases |
Bowel incontinence | Uncommon - Between 30% and 50% cases |
Abnormality of color vision | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ABCD1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Impotence
- Adrenal insufficiency
- Emotional lability
- Abnormality of mitochondrial metabolism
- Primary adrenal insufficiency
- Incoordination
- Slurred speech
- Spastic paraparesis
And 61 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ABCD1 gene
Here you will find a list of rare diseases related to the ABCD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CADDS
Alternate names
CADDS Is also known as contiguous abcd1 dxs1357e deletion syndrome, zellweger-like contiguous gene deletion syndrome
Description
CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).
More info about CADDS
SOURCES: ORPHANET
ADRENOMYELONEUROPATHY
Description
Adrenomyeloneuropathy (AMN) is an adult form of the peroxisomal disease X-linked adrenoleukodystrophy (X-ALD, see this term), characterized by spastic paraparesia and often associated with peripheral adrenal insufficiency in males.
More info about ADRENOMYELONEUROPATHY
SOURCES: ORPHANET
X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY
Alternate names
X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY Is also known as siemerling-creutzfeldt disease, addison disease and cerebral sclerosis, bronze schilder disease, melanodermic leukodystrophy
Description
X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.
Most common symptoms of X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY
- Seizures
- Hearing impairment
- Ataxia
- Spasticity
- Cognitive impairment
More info about X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY
Search interest in ABCD1
Potential gene panels for ABCD1 gene
MitoMet®Plus aCGH Analysis Panel
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 panelGeneAware Complete Panel Version 2 (Female) Panel
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 panelABCD1 DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the ABCD1 gene.
More info about this panelPrimary Adrenal Insufficiency Evaluation Panel
By Athena Diagnostics Inc Primary Adrenal Insufficiency Evaluation that also includes the following genes: AIRE ABCD1 NR0B1
More info about this panelABCD1 (Adrenoleukodystrophy) DNA Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the ABCD1 gene.
More info about this panelNGS XLID Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelAdrenoleukodystrophy, X-linked Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the ABCD1 gene.
More info about this panelHereditary Spastic Paraplegia Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG
More info about this panelX-Adrenoleukodystrophy Panel
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital
This panel specifically test the ABCD1 gene.
More info about this panelHereditary Spastic Paraplegia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1
More info about this panelAtaxia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panelX-Linked Adrenoleukodystrophy Panel
By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital
This panel specifically test the ABCD1 gene.
More info about this panelAdrenoleukodystrophy, X- Linked (ABCD1) Sequencing Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the ABCD1 gene.
More info about this panelAdrenoleukodystrophy, X-Linked (ABCD1) Sequencing and Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the ABCD1 gene.
More info about this panelAdrenoleukodystrophy, X-Linked (ABCD1) Deletion/Duplication Panel
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the ABCD1 gene.
More info about this panelHereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel Panel
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 panelAdrenoleukodystrophy, X-Linked Panel
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 ABCD1 gene.
More info about this panelPeroxisomal Disorders Sequencing Panel Panel
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Peroxisomal Disorders Sequencing Panel that also includes the following genes: SCP2 ACOX1 CAT GDAP1 PEX26 MFF FAR1 DNM1L PEX5L AGPS
More info about this panelAdrenoleukodystrophy, X-Linked Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the ABCD1 gene.
More info about this panelPeroxisomal disorders Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Peroxisomal disorders that also includes the following genes: SCP2 ACOX1 PEX26 DNM1L AGPS AGXT GNPAT AMACR HSD17B4 ABCD1
More info about this panelCustomNext: Neuro Panel
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panelNeurodevelopment-Expanded Panel
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panelIDNext Panel
By Ambry Genetics IDNext that also includes the following genes: RPL10 RPS6KA3 SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMARCA2
More info about this panelNGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel
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 panelABCD1. MLPA testing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ABCD1 gene.
More info about this panelABCD1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ABCD1 gene.
More info about this panelAdrenoleukodystrophy (sequence analysis of ABCD1 gene) Panel
By CGC Genetics
This panel specifically test the ABCD1 gene.
More info about this panelMental retardation, X-linked (NGS panel for 89 genes) Panel
By CGC Genetics Mental retardation, X-linked (NGS panel for 89 genes) that also includes the following genes: RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelAdrenoleukodystrophy (deletion/duplication analysis of ABCD1 gene) Panel
By CGC Genetics
This panel specifically test the ABCD1 gene.
More info about this panelAdrenoleukodystrophy (deletion/duplication analysis of ABCD1 gene) Panel
By CGC Genetics
This panel specifically test the ABCD1 gene.
More info about this panelAdrenoleukodystrophy X linked Panel
By Mersey Regional Genetics Laboratories Liverpool Women's Hospital
This panel specifically test the ABCD1 gene.
More info about this panelX-linked adrenoleukodystrophy (X-ALD) Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the ABCD1 gene.
More info about this panelAdrenoleukodystrophy (X-linked ALD) Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the ABCD1 gene.
More info about this panelAdrenoleukodystrophy, X-Linked Panel
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the ABCD1 gene.
More info about this panelX-Linked Adrenoleukodystrophy via ABCD1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ABCD1 gene.
More info about this panelPeroxisomal Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Peroxisomal Disorders Sequencing Panel with CNV Detection that also includes the following genes: ACOX1 PEX26 DNM1L AGPS GNPAT HSD17B4 ABCD1 ABCD3 PEX1 PEX10
More info about this panelX-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS
More info about this panelComplex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8
More info about this panelHereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1
More info about this panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
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 panelLeukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
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 panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelAdrenoleukodystrophy Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the ABCD1 gene.
More info about this panelAdrenoleukodystrophy, X-Linked Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the ABCD1 gene.
More info about this panelAdrenoleukodystrophy/Adrenomyeloneuropathy Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ABCD1 gene.
More info about this panelAdrenoleukodystrophy Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ABCD1 gene.
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelLeukodystrophy / Leukencephalopathy Panel Panel
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 panelPeroxisomal Disorder Panel Panel
By CeGaT GmbH Peroxisomal Disorder Panel that also includes the following genes: PEX26 AMACR ABCD1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16
More info about this panelLeukodystrophy and Leukoencephalopathy Panel Panel
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 panelHereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
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 panelLeukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
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 panelPeroxisomal Disorders Panel Panel
By CeGaT GmbH Peroxisomal Disorders Panel that also includes the following genes: PEX26 AMACR ABCD1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16
More info about this panelSingle gene testing ABCD1 Panel
By CeGaT GmbH
This panel specifically test the ABCD1 gene.
More info about this panelLeukodystrophy / Leukoencephalopathy Panel Panel
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 panelAdrenoleukodystrophy Panel
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the ABCD1 gene.
More info about this panelAdrenoleukodystrophy,ABCD1, X-Linked Panel
By GGA - Galil Genetic Analysis
This panel specifically test the ABCD1 gene.
More info about this panelAdrenoleukodystrophy Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the ABCD1 gene.
More info about this panelLeukodystrophy and Leukoencephalopathy Panel
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 panelX-linked adrenoleukodystrophy, ABCD1 sequencing Panel
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the ABCD1 gene.
More info about this panelRetinal Dystrophy Panel Panel
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 panelAdrenoleukodystrophy/Adrenomyeloneuropath Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the ABCD1 gene.
More info about this panelABCD1 Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the ABCD1 gene.
More info about this panelqCarrier Plus Panel
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 panelAdrenoleukodystrophy/Adrenomyeloneuropath Panel
By MedGene
This panel specifically test the ABCD1 gene.
More info about this panelInvitae Hereditary Spastic Paraplegia X-linked Panel Panel
By Invitae Invitae Hereditary Spastic Paraplegia X-linked Panel that also includes the following genes: SLC16A2 KDM5C ABCD1 L1CAM PLP1
More info about this panelInvitae Metabolic Disorders Newborn Screening Confirmation Panel Panel
By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ
More info about this panelInvitae Hereditary Spastic Paraplegia Comprehensive Panel Panel
By Invitae Invitae Hereditary Spastic Paraplegia Comprehensive Panel that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1 ERLIN2
More info about this panelInvitae X-Linked Adrenoleukodystrophy Test Panel
By Invitae
This panel specifically test the ABCD1 gene.
More info about this panelInvitae X-Linked Adrenoleukodystrophy Newborn Screening Confirmation Test Panel
By Invitae
This panel specifically test the ABCD1 gene.
More info about this panelInvitae Treatable Neurometabolic Disorders Panel Panel
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 panelAdrenoleukodystrophy, X-Linked: ABCD1 gene deletions-duplications analysis (MLPA) Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ABCD1 gene.
More info about this panelAdrenoleukodystrophy, X-Linked: ABCD1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ABCD1 gene.
More info about this panelLeukodistrophy Panel
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 panelPeroxisomal disorders Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Peroxisomal disorders that also includes the following genes: SCP2 ACOX1 ABHD12 PEX26 DNM1L AGPS GNPAT HSD17B4 ABCD1 ABCD3
More info about this panelX-Linked Adrenoleukodystrophy: ABCD1 Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ABCD1 gene.
More info about this panelX-Linked Adrenoleukodystrophy: ABCD1 Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ABCD1 gene.
More info about this panelAmyotrophic Lateral Sclerosis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP ABCG5 ABHD12 FIG4 OPTN
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelPeroxisomal NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Peroxisomal NGS Panel that also includes the following genes: ACOX1 PEX26 DNM1L AGPS HSD17B4 ABCD1 ABCD3 PEX1 PEX10 PEX11B
More info about this panelSpastic Paraplegia NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Spastic Paraplegia NGS Panel that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ACOX1 BSCL2 NIPA1 SPART
More info about this panelNuclear-Mito NGS Panel Panel
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 panelXLID NGS Panel Panel
By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1
More info about this panelABCD1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ABCD1 gene.
More info about this panelX-chromosome High Resolution microarray analysis Panel
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panelSpastic Paraplegia Panel Panel
By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR
More info about this panelX-linked Intellectual Disability Panel Panel
By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelPeroxisomal Disorders Panel Panel
By Blueprint Genetics Peroxisomal Disorders Panel that also includes the following genes: ACOX1 SUGCT DYM PEX26 EBP AGPS AGXT GNPAT AMACR HSD17B4
More info about this panelLeukodystrophy and Leukoencephalopathy Panel Panel
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 panelComprehensive Epilepsy Panel Panel
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panelX-linked adrenoleukodystrophy Panel
By Bioarray
This panel specifically test the ABCD1 gene.
More info about this panelBaby Genes Targeted Panel Panel
By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panelExome Panel
By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9
More info about this panelADRENOLEUKODYSTROPHY OR SCHILDER DISEASE (X-LINKED) Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the ABCD1 gene.
More info about this panelSPASTIC PARAPLEGIA, FAMILIAL (X-LINKED) Panel
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL (X-LINKED) that also includes the following genes: ABCD1 L1CAM PLP1
More info about this panelSPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP
More info about this panelX-Linked Adrenoleukodystrophy, Sequencing ABCD1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ABCD1 gene.
More info about this panelX-Linked Adrenoleukodystrophy , Deletions-Duplications (MLPA) ABCD1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ABCD1 gene.
More info about this panelLeukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel
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 panelStorage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
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 panelplanTrue Extended Panel
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 panelCEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
More info about this panelAdrenoleukodystrophy (X-linked): Full gene sequencing (Rapid testing) Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the ABCD1 gene.
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