Adrenoleukodystrophy; Ald

Description

Adrenoleukodystrophy is an X-linked disorder which is secondary to a mutation in the ABCD1 gene and results in the apparent defect in peroxisomal beta oxidation and the accumulation of the saturated very long chain fatty acids (VLCFA) in all tissues of the body. The manifestations of the disorder occur primarily in the adrenal cortex, the myelin of the central nervous system, and the Leydig cells of the testes.ABCD1 is an ATPase binding cassette protein in the same category of transporter proteins such as the CFTR and MDR proteins.Identification of X-ALD as a lipid-storage disease, as a defect in the capacity to degrade VLCFAs, and its characterization as a peroxisomal disorder was reviewed by Moser (1997).Moser et al. (2005) provided a clinical review of ALD.

Clinical Features

Top most frequent phenotypes and symptoms related to Adrenoleukodystrophy; Ald

  • Seizures
  • Pica
  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy
  • Tics
  • Ventricular septal defect
And another 68 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Adrenoleukodystrophy; Ald Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
ABCD1 DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

ABCD1
Specificity
100 %
Genes
100 %
Primary Adrenal Insufficiency Evaluation.

By Athena Diagnostics Inc in United States.

ABCD1, AIRE, NR0B1
Specificity
34 %
Genes
100 %
ABCD1 (Adrenoleukodystrophy) DNA Sequencing Test.

By Athena Diagnostics Inc in United States.

ABCD1
Specificity
100 %
Genes
100 %
NGS XLID Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, ARX , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
Adrenoleukodystrophy, X-linked.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ABCD1
Specificity
100 %
Genes
100 %
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

C12orf65, TUBB3, HSPD1, OPA3, MECP2, ALDH18A1, REEP1, SPG7, ABCD1, ACOX1, FARS2, GJC2, PLP1, SLC2A1, SACS, PLA2G6, ATL1, ZFYVE26, SPG11, SPAST , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
X-Adrenoleukodystrophy.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States.

ABCD1
Specificity
100 %
Genes
100 %
Hereditary Spastic Paraplegia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, FARS2, GJC2, PLP1, SLC2A1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
X-Linked Adrenoleukodystrophy.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy, X- Linked (ABCD1) Sequencing.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy, X-Linked (ABCD1) Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy, X-Linked (ABCD1) Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

ABCD1
Specificity
100 %
Genes
100 %
Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel.

By GeneDx in United States.

MTHFR, ARG1, BTD, MMACHC, OPA3, SPR, ABCD1, PTS, GALC, GBE1, CYP27A1, ARSA, TH, GCH1
Specificity
8 %
Genes
100 %
Adrenoleukodystrophy, X-Linked.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy, X-Linked.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

ABCD1
Specificity
100 %
Genes
100 %
Peroxisomal disorders.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

AMACR, HSD17B4, DNM1L, AGPS, ABCD1, ACOX1, AGXT, PEX2, PEX7, PEX1, PEX6, PEX3, PEX10, PEX5, GNPAT, PEX11B
Specificity
7 %
Genes
100 %
CustomNext: Neuro.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
IDNext.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, MECP2, GAMT, GATM, TUSC3, SLC25A22, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1 , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

MTHFR, ARG1, HLCS, BCKDHA, BCKDHB, ADSL, MMACHC, MTR, MTRR, CPS1, HPRT1, DLD, COQ9, PDSS2, PDSS1, GAMT, GATM, SPR, COQ8A, COQ2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
ABCD1. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCD1
Specificity
100 %
Genes
100 %
ABCD1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy (sequence analysis of ABCD1 gene).

By CGC Genetics in Portugal.

ABCD1
Specificity
100 %
Genes
100 %
Mental retardation, X-linked (NGS panel for 89 genes).

By CGC Genetics in Portugal.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Adrenoleukodystrophy (deletion/duplication analysis of ABCD1 gene).

By CGC Genetics in Portugal.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy (deletion/duplication analysis of ABCD1 gene).

By CGC Genetics in Portugal.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy X linked.

By Mersey Regional Genetics Laboratories Liverpool Women's Hospital in United Kingdom.

ABCD1
Specificity
100 %
Genes
100 %
X-linked adrenoleukodystrophy (X-ALD).

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy (X-linked ALD).

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy, X-Linked.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center in Netherlands.

ABCD1
Specificity
100 %
Genes
100 %
X-Linked Adrenoleukodystrophy via ABCD1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABCD1
Specificity
100 %
Genes
100 %
Peroxisomal Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HSD17B4, DNM1L, AGPS, ABCD1, PHYH, ACOX1, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, GNPAT , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, HSD17B10, NDP, HPRT1, NHS, MECP2, OTC, PDHA1, GK, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, ARX, CDKL5, IDS , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %
Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, PNPLA6 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

C12orf65, HSPD1, VCP, ALDH18A1, REEP1, SPG7, GAD1, ABCD1, FARS2, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
1 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Adrenoleukodystrophy.

By Bioscientia GmbH Center for Human Genetics in Germany.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy, X-Linked.

By Bioscientia GmbH Center for Human Genetics in Germany.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy/Adrenomyeloneuropathy.

By Centogene AG - the Rare Disease Company in Germany.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy.

By Centogene AG - the Rare Disease Company in Germany.

ABCD1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy / Leukencephalopathy Panel.

By CeGaT GmbH in Germany.

PSAP, HSPD1, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1, SAMHD1, RNASEH2A , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Peroxisomal Disorder Panel.

By CeGaT GmbH in Germany.

AMACR, ABCD1, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B
Specificity
7 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

PSAP, HSPD1, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1, SAMHD1, RNASEH2A , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...)

View the complete list with 155 more genes
Specificity
1 %
Genes
100 %
Peroxisomal Disorders Panel.

By CeGaT GmbH in Germany.

AMACR, ABCD1, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B
Specificity
7 %
Genes
100 %
Single gene testing ABCD1.

By CeGaT GmbH in Germany.

ABCD1
Specificity
100 %
Genes
100 %
Leukodystrophy / Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

AARS2, TYROBP, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, ALDH3A2, ACOX1, GALC, L2HGDH, GBE1, GCDH, CYP27A1, ARSA, ASPA, EIF2B1, GJC2, PLP1 , (...)

View the complete list with 56 more genes
Specificity
2 %
Genes
100 %
Adrenoleukodystrophy.

By Laboratory of Human Genetics GENOMED Health Care Center in Poland.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy,ABCD1, X-Linked.

By GGA - Galil Genetic Analysis in Israel.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

ABCD1
Specificity
100 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

PSAP, HSPD1, SCP2, DARS2, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
X-linked adrenoleukodystrophy, ABCD1 sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

ABCD1
Specificity
100 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
Adrenoleukodystrophy/Adrenomyeloneuropath.

By Praxis fuer Humangenetik Wien in Austria.

ABCD1
Specificity
100 %
Genes
100 %
ABCD1.

By Division Human Genetics Medical University Innsbruck in Austria.

ABCD1
Specificity
100 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
100 %
Adrenoleukodystrophy/Adrenomyeloneuropath.

By MedGene in Slovakia.

ABCD1
Specificity
100 %
Genes
100 %
Invitae Hereditary Spastic Paraplegia X-linked Panel.

By Invitae in United States.

ABCD1, PLP1, L1CAM, KDM5C, SLC16A2
Specificity
20 %
Genes
100 %
Invitae Metabolic Disorders Newborn Screening Confirmation Panel.

By Invitae in United States.

MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, PC, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, MTRR, CPS1, CPT2, PRODH , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Invitae Hereditary Spastic Paraplegia Comprehensive Panel.

By Invitae in United States.

C12orf65, HSPD1, ALDH18A1, REEP1, SPG7, ABCD1, GJC2, PLP1, SACS, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, BSCL2, WASHC5, RTN2, PNPLA6 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Invitae X-Linked Adrenoleukodystrophy Test.

By Invitae in United States.

ABCD1
Specificity
100 %
Genes
100 %
Invitae X-Linked Adrenoleukodystrophy Newborn Screening Confirmation Test.

By Invitae in United States.

ABCD1
Specificity
100 %
Genes
100 %
Invitae Treatable Neurometabolic Disorders Panel.

By Invitae in United States.

MTHFR, MCCC1, MCCC2, ACAT1, ARG1, HLCS, ATP7A, BTD, ATP7B, AUH, BCKDHA, BCKDHB, MMACHC, AMN, MTR, MTRR, CPS1, HSD17B10, DLD, SLC25A13 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Adrenoleukodystrophy, X-Linked: ABCD1 gene deletions-duplications analysis (MLPA).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ABCD1
Specificity
100 %
Genes
100 %
Adrenoleukodystrophy, X-Linked: ABCD1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ABCD1
Specificity
100 %
Genes
100 %
Leukodistrophy.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2 , (...)

View the complete list with 38 more genes
Specificity
2 %
Genes
100 %
Peroxisomal disorders.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

ABHD12, HSD17B4, DNM1L, SCP2, AGPS, ABCD1, PHYH, ACOX1, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
X-Linked Adrenoleukodystrophy: ABCD1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCD1
Specificity
100 %
Genes
100 %
X-Linked Adrenoleukodystrophy: ABCD1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCD1
Specificity
100 %
Genes
100 %
Amyotrophic Lateral Sclerosis NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ABHD12, OPTN, VCP, ACAD8, ABCD1, SOD1, FIG4, C9orf72, ATXN2, ALS2, SIGMAR1, FUS, SETX, DCTN1, CHMP2B, TARDBP, ANG, VAPB, PFN1, UBQLN2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
Peroxisomal NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HSD17B4, DNM1L, AGPS, ABCD1, PHYH, ACOX1, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Spastic Paraplegia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

OPA3, REEP1, SPG7, ABCD1, ACOX1, PLP1, ATL1, ZFYVE26, SPG11, SPAST, KIF5A, L1CAM, NIPA1, SLC33A1, BSCL2, WASHC5, RTN2, KIF1A, CYP7B1, AP5Z1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

HTT, UBE3A, MUTYH, TP53, MCCC1, MCCC2, AARS2, ACACA, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, GYS2, UQCRQ, UQCRB , (...)

View the complete list with 484 more genes
Specificity
1 %
Genes
100 %
XLID NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
ABCD1.

By Fulgent Genetics Fulgent Genetics in United States.

ABCD1
Specificity
100 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %
Spastic Paraplegia Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, C12orf65, HSPD1, AFG3L2, SPR, REEP1, SPG7, ABCD1, PAH, GALC, SLC25A15, L2HGDH, GBE1, FXN, CYP27A1, FARS2, GJC2, PLP1, SACS , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
X-linked Intellectual Disability Panel.

By Blueprint Genetics in Finland.

FMR1, ATP7A, HSD17B10, OCRL, NDP, HPRT1, NHS, MECP2, OTC, HCCS, PDHA1, GK, TIMM8A, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, NDUFA1, SLC6A8 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Peroxisomal Disorders Panel.

By Blueprint Genetics in Finland.

AMACR, HSD17B4, AGPS, ABCD1, PHYH, ACOX1, AGXT, SUGCT, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

PSAP, HSPD1, FOXRED1, NFU1, TTC19, NUBPL, DARS2, GFM1, D2HGDH, AIFM1, ABCD1, ALDH3A2, COX15, SDHAF1, NDUFAF5, HIBCH, GALC, L2HGDH, COX6B1, CYP27A1 , (...)

View the complete list with 54 more genes
Specificity
2 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
X-linked adrenoleukodystrophy.

By Bioarray in Spain.

ABCD1
Specificity
100 %
Genes
100 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
ADRENOLEUKODYSTROPHY OR SCHILDER DISEASE (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

ABCD1
Specificity
100 %
Genes
100 %
X-Linked Adrenoleukodystrophy, Sequencing ABCD1 Gene.

By Reference Laboratory Genetics in Spain.

ABCD1
Specificity
100 %
Genes
100 %
X-Linked Adrenoleukodystrophy , Deletions-Duplications (MLPA) ABCD1 Gene.

By Reference Laboratory Genetics in Spain.

ABCD1
Specificity
100 %
Genes
100 %
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes.

By Reference Laboratory Genetics in Spain.

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2, PEX7 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes.

By Reference Laboratory Genetics in Spain.

ALDOB, FBP1, PC, HSD17B4, PSAP, GNPTAB, GLB1, GNE, DLD, SMPD1, PDHB, PCK2, SCP2, CTSD, PDP1, GRN, AGPS, PDHA1, ABCD1, HEXA , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
planTrue Extended.

By True Health Diagnostics in United States.

FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
100 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
Adrenoleukodystrophy (X-linked): Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ABCD1
Specificity
100 %
Genes
100 %

Alternate names

Adrenoleukodystrophy; Ald Is also known as addison disease and cerebral sclerosis, siemerling-creutzfeldt disease, bronze schilder disease, melanodermic leukodystrophy;.


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