Peroxisome Biogenesis Disorder 2b; Pbd2b

Description

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX5 gene have cells of complementation group 2 (CG2). For information on the history of PBD complementation groups, see {214100}.

Clinical Features

Top most frequent phenotypes and symptoms related to Peroxisome Biogenesis Disorder 2b; Pbd2b

  • Intellectual disability
  • Seizures
  • Abnormal facial shape
  • Low-set ears
  • Epicanthus
  • High palate
  • Wide nasal bridge
  • Frontal bossing
  • Anteverted nares
  • Dolichocephaly
And another 5 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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Peroxisome Biogenesis Disorder 2b; Pbd2b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

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

COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA , (...)

View the complete list with 67 more genes
Specificity
3 %
Genes
100 %
NGS Peroxisome Biogenesis Disorders Panel.

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

PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5
Specificity
17 %
Genes
100 %
Lysosomal Storage Disease Panel.

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

GAA, COL2A1, PSAP, GNPTAB, GLB1, GNE, SMPD1, CTSD, HEXA, GM2A, HEXB, PHYH, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH , (...)

View the complete list with 55 more genes
Specificity
3 %
Genes
100 %
Zellweger Spectrum Disorder NGS Panel.

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

DNM1L, PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5
Specificity
16 %
Genes
100 %
Zelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel.

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

HSD17B4, DNM1L, SCP2, ACOX1, PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5
Specificity
13 %
Genes
100 %
Peroxisomal Disorders Comprehensive NGS Panel.

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

AMACR, HSD17B4, DNM1L, CAT, SCP2, AGPS, PHYH, ACOX1, AGXT, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10 , (...)

View the complete list with 4 more genes
Specificity
9 %
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
50 %
PEX5. Complete sequencing.

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

PEX5
Specificity
100 %
Genes
50 %
Zellweger syndrome (sequence analysis of PEX5 gene).

By CGC Genetics in Portugal.

PEX5
Specificity
100 %
Genes
50 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
2 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
2 %
Genes
100 %
Zellweger Syndrome Spectrum.

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

PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B
Specificity
16 %
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
10 %
Genes
100 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX5 Gene.

By PreventionGenetics PreventionGenetics in United States.

PEX5
Specificity
100 %
Genes
50 %
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
2 %
Genes
100 %
Chondrodysplasia punctata and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

AGPS, PEX7, LBR, PEX5, EBP, NSDHL, GNPAT, MGP, ARSE, FAR1
Specificity
10 %
Genes
50 %
Chondrodysplasia punctata and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

AGPS, PEX7, LBR, PEX5, EBP, NSDHL, GNPAT, MGP, ARSE, FAR1
Specificity
10 %
Genes
50 %
Chondrodysplasia punctata and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

AGPS, PEX7, LBR, PEX5, EBP, NSDHL, GNPAT, MGP, ARSE, FAR1
Specificity
10 %
Genes
50 %
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 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

HFE, ABCB11, ABCB4, ATP7B, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, ALAS2, SLC25A13, SMPD1, DGUOK, FAH, MPV17 , (...)

View the complete list with 49 more genes
Specificity
3 %
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 %
Zellweger syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5
Specificity
17 %
Genes
100 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX5
Specificity
100 %
Genes
50 %
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 %
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
13 %
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
2 %
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
13 %
Genes
100 %
Refsum Disease Panel.

By CeGaT GmbH in Germany.

PHYH, PEX2, PEX7, PEX1, PEX3, PEX26, PEX5
Specificity
29 %
Genes
100 %
Single gene testing PEX5.

By CeGaT GmbH in Germany.

PEX5
Specificity
100 %
Genes
50 %
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
3 %
Genes
100 %
Zellweger Spectrum Disorders.

By Asper Biogene Asper Biogene LLC in Estonia.

PHYH, PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5
Specificity
15 %
Genes
100 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
2 %
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 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
Invitae Zellweger Spectrum Disorder Panel.

By Invitae in United States.

AMACR, HSD17B4, ACOX1, PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5
Specificity
14 %
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
4 %
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
9 %
Genes
100 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX5-Related: PEX5 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX5
Specificity
100 %
Genes
50 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX5-Related: PEX5 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX5
Specificity
100 %
Genes
50 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B
Specificity
15 %
Genes
100 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABCB11, ABCB4, ATP8B1, INVS, HNF1B, TRMU, CC2D2A, JAG1, NPHP3, NPHP1, NPHP4, POLG, SLC25A13, SMPD1, DGUOK, FAH, MPV17, CYP27A1, MKS1, CFTR , (...)

View the complete list with 37 more genes
Specificity
4 %
Genes
100 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GCSH, GLDC, AMT, LMBRD1, HEXA, GM2A , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
100 %
Neuromuscular NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TRIM32, PMM2, DMD, FKTN, NEB, PEX2, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5 , (...)

View the complete list with 30 more genes
Specificity
4 %
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
10 %
Genes
100 %
Zellweger Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B
Specificity
16 %
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 %
PEX5.

By Fulgent Genetics Fulgent Genetics in United States.

PEX5
Specificity
100 %
Genes
50 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
Lysosomal Disorders and Mucopolysaccharidosis Panel.

By Blueprint Genetics in Finland.

ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GLDC, AMT, HEXA, GM2A, SUOX, ALDH5A1 , (...)

View the complete list with 82 more genes
Specificity
2 %
Genes
100 %
Cholestasis Panel.

By Blueprint Genetics in Finland.

EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1 , (...)

View the complete list with 26 more genes
Specificity
5 %
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
8 %
Genes
100 %
Zellweger syndrome.

By Bioarray in Spain.

PEX5
Specificity
100 %
Genes
50 %
Peroxisome biogenesis disorder 2A.

By Bioarray in Spain.

PEX5
Specificity
100 %
Genes
50 %
Zellweger syndrome.

By Bioarray in Spain.

PEX5
Specificity
100 %
Genes
50 %
Peroxisome biogenesis disorder 2b.

By Bioarray in Spain.

PEX5
Specificity
100 %
Genes
50 %
ZELLWEGER SYNDROME – NGS –PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

PEX2, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX5
Specificity
19 %
Genes
100 %
Zellweger Syndrome Type 2A , Sequencing PEX5 Gene.

By Reference Laboratory Genetics in Spain.

PEX5
Specificity
100 %
Genes
50 %
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
50 %
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes.

By Reference Laboratory Genetics in Spain.

GAA, AMACR, HSD17B4, PSAP, GNPTAB, GLB1, SMPD1, DNM1L, CAT, SCP2, CTSD, AGPS, LMBRD1, HEXA, GM2A, HEXB, PHYH, CTSK, ACOX1, AGXT , (...)

View the complete list with 58 more genes
Specificity
3 %
Genes
100 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...)

View the complete list with 91 more genes
Specificity
2 %
Genes
100 %
Zellweger Syndrome , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

PEX2, PEX7, PEX1, PEX6, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, PEX11B
Specificity
15 %
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
3 %
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
50 %
Peroxisomal disorders targetted panel.

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

PEX1, PEX6, PEX26, PEX10, PEX12
Specificity
20 %
Genes
50 %
PEX26. Sequencing of the exons 2 and 3.

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

PEX26
Specificity
100 %
Genes
50 %
PEX26. Complete sequencing.

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

PEX26
Specificity
100 %
Genes
50 %
Zellweger syndrome (sequence analysis of PEX26 gene).

By CGC Genetics in Portugal.

PEX26
Specificity
100 %
Genes
50 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX26 Gene.

By PreventionGenetics PreventionGenetics in United States.

PEX26
Specificity
100 %
Genes
50 %
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GNPTAB, GLB1, RAF1, CTSA, GUSB, GALNS, GBA, BRAF, DHCR7, HRAS, IDUA, KRAS, LIPA, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
50 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
50 %
Refsum disease panel.

By Centogene AG - the Rare Disease Company in Germany.

PHYH, PEX2, PEX7, PEX1, PEX26
Specificity
20 %
Genes
50 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX26
Specificity
100 %
Genes
50 %
Single gene testing PEX26.

By CeGaT GmbH in Germany.

PEX26
Specificity
100 %
Genes
50 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX26-Related: PEX26 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX26
Specificity
100 %
Genes
50 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX26-Related: PEX26 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX26
Specificity
100 %
Genes
50 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
50 %
Zellweger syndrome spectrum, PEX26-related.

By Integrated Genetics Westborough Integrated Genetics in United States.

PEX26
Specificity
100 %
Genes
50 %
Retinitis Pigmentosa NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, RP1, WFS1, ABCA4, CACNA1F, ARL6, NPHP3, NPHP1, MKKS, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
50 %
PEX26.

By Fulgent Genetics Fulgent Genetics in United States.

PEX26
Specificity
100 %
Genes
50 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
50 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
50 %
Peroxisome biogenesis disorder 7B.

By Bioarray in Spain.

PEX26
Specificity
100 %
Genes
50 %
Zellweger syndrome.

By Bioarray in Spain.

PEX26
Specificity
100 %
Genes
50 %
Zellweger syndrome.

By Bioarray in Spain.

PEX26
Specificity
100 %
Genes
50 %
Peroxisome biogenesis disorder 7A.

By Bioarray in Spain.

PEX26
Specificity
100 %
Genes
50 %
ZELLWEGER SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

PEX2, PEX1, PEX6, PEX26, PEX12
Specificity
20 %
Genes
50 %
Refsum Disease , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

PHYH, PEX2, PEX1, PEX26
Specificity
25 %
Genes
50 %

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