Peroxisome Biogenesis Disorder 1b; Pbd1b

Description

Peroxisome biogenesis disorder-1B (PBD1B) is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). Initial presentation and natural history varies, with many children presenting as newborns, whereas others do not come to attention until later. Most affected children have hypotonia, but unlike Zellweger syndrome (see PBD1A, {214100}) there is a degree of psychomotor development, and some patients achieve head control, sit unsupported, and may even walk independently. Many can communicate, and although language is rare, there have been children who have near normal language for age. Craniofacial anomalies are similar to but less pronounced than in Zellweger syndrome. In some individuals a leukodystrophy develops, with degeneration of myelin, loss of previously acquired skills, and development of spasticity; this may stabilize, or progress and be fatal. In PBD1B, the most common manifestations that are less apparent in ZS are sensorineural hearing loss and retinitis pigmentosa (summary by Steinberg et al., 2006). While Zellweger syndrome usually results in death in the first year of life, children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).Individuals with mutations in the PEX1 gene have cells of complementation group 1 (CG1, equivalent to CGE). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Peroxisome Biogenesis Disorder NALD/IRDThe phenotypic spectrum of NALD/IRD peroxisome biogenesis disorders can be caused by mutation in members of the peroxin (PEX) gene family. The PEX genes encode proteins essential for the assembly of functional peroxisomes (summary by Distel et al., 1996). PBD1B is caused by mutation in the PEX1 gene on chromosome 7q21; PBD2B (OMIM ) is caused by mutation in the PEX5 gene (OMIM ) on chromosome 12p13.3; PBD3B (OMIM ) is caused by mutation in the PEX12 gene (OMIM ) on chromosome 17; PBD4B (OMIM ) is caused by mutation in the PEX6 gene (OMIM ) on chromosome 6p21.1; PBD5B (OMIM ) is caused by mutation in the PEX2 gene (OMIM ) on chromosome 8q21.1; PBD6B (OMIM ) is caused by mutation in the PEX10 gene (OMIM ) on chromosome 1p36.32; PBD7B (OMIM )is caused by mutation in the PEX26 gene (OMIM ) on chromosome 22q11.21; PBD8B (OMIM ) is caused by mutation in the PEX16 gene (OMIM ) on chromosome 11p11; PDB10B (OMIM ) is caused by mutation in the PEX3 gene (OMIM ) on chromosome 6q24; and PBD11B (OMIM ) is caused by mutation in the PEX13 gene (OMIM ) on chromosome 2p15.See PBD1A (OMIM ) for a phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, which is also caused by mutation in peroxin genes. The rhizomelic chondrodysplasia subtype of PBD (RCDP1, PBD9; {215100}), and a mild PBD without rhizomelia (PBD9B ), are caused by mutation in the PEX7 gene (OMIM ) on chromosome 6q23.

Clinical Features

Top most frequent phenotypes and symptoms related to Peroxisome Biogenesis Disorder 1b; Pbd1b

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Hearing impairment
  • Ataxia
  • Growth delay
  • Nystagmus
And another 57 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.


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Peroxisome Biogenesis Disorder 1b; Pbd1b 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.

PTH1R, SEC23B, CDAN1, CCBE1, CANT1, CHRNG, NEU1, UROS, PKLR, FOXP3, SOX18, RASA1, MVK, RPS24, RPS17, RPL5, RPL11, CLCNKA, RPS10, RPS26 , (...)

View the complete list with 67 more genes
Specificity
13 %
Genes
85 %
NGS Peroxisome Biogenesis Disorders Panel.

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

PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2
Specificity
100 %
Genes
93 %
Lysosomal Storage Disease Panel.

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

DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, COL11A2 , (...)

View the complete list with 55 more genes
Specificity
16 %
Genes
93 %
Zellweger Spectrum Disorder NGS Panel.

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

PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2, DNM1L
Specificity
93 %
Genes
93 %
Zelweger Spectrum Disorder and Beta-Oxidation Defect NGS Panel.

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

PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2, ACOX1, SCP2, DNM1L, HSD17B4
Specificity
75 %
Genes
93 %
Peroxisomal Disorders Comprehensive NGS Panel.

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

TRIM37, GNPAT, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, AGXT, ACOX1, PHYH, AGPS, SCP2 , (...)

View the complete list with 4 more genes
Specificity
50 %
Genes
93 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...)

View the complete list with 460 more genes
Specificity
2 %
Genes
39 %
Peroxisomal disorders.

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

PEX11B, GNPAT, PEX5, PEX10, PEX3, PEX6, PEX1, PEX7, PEX2, AGXT, ACOX1, ABCD1, AGPS, DNM1L, HSD17B4, AMACR
Specificity
44 %
Genes
54 %
Peroxisomal disorders targetted panel.

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

PEX12, PEX10, PEX26, PEX6, PEX1
Specificity
100 %
Genes
39 %
PEX10. Sequencing of the exons 4 and 5.

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

PEX10
Specificity
100 %
Genes
8 %
PEX10. Complete sequencing.

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

PEX10
Specificity
100 %
Genes
8 %
Zellweger syndrome (sequence analysis of PEX10 gene).

By CGC Genetics in Portugal.

PEX10
Specificity
100 %
Genes
8 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

SC5D, SIAE, IGF2R, EHHADH, FAR1, ABCD3, PMVK, ATP6AP1, MFF, ECM1, ACP2, VMA21, DNASE1, PEX11B, LAMTOR2, ATP6V0A4, IDH1, VIPAS39, TRIM37, GNPAT , (...)

View the complete list with 88 more genes
Specificity
13 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

SC5D, SIAE, IGF2R, EHHADH, FAR1, ABCD3, PMVK, ATP6AP1, MFF, ECM1, ACP2, VMA21, DNASE1, PEX11B, LAMTOR2, ATP6V0A4, IDH1, VIPAS39, TRIM37, GNPAT , (...)

View the complete list with 88 more genes
Specificity
13 %
Genes
100 %
Zellweger Syndrome Spectrum.

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

PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2
Specificity
100 %
Genes
100 %
Peroxisomal Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABCD3, PEX11B, GNPAT, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, ACOX1, PHYH, ABCD1, AGPS , (...)

View the complete list with 2 more genes
Specificity
60 %
Genes
100 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX10 Gene.

By PreventionGenetics PreventionGenetics in United States.

PEX10
Specificity
100 %
Genes
8 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ACBD5, OR2W3, CFAP57, CEP250, SLC4A7, REEP6, NXNL1, MIR204, IFT81, PRDM13, IFT88, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, VCAN , (...)

View the complete list with 285 more genes
Specificity
5 %
Genes
100 %
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GLE1, CHRNG, KAT6B, PEX12, PEX10, PEX26, PEX6, KCNQ1, SCN5A, KCNH2, CHRND, CHRNA1, MUSK, KLHL40, RAPSN, SUMF1, SLC17A5, PEX1, DOK7, CBL , (...)

View the complete list with 20 more genes
Specificity
13 %
Genes
39 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ISCA2, JAM3, LYRM7, DARS, AIMP1, PEX11B, COL4A2, FAM126A, APOPT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, SLC25A1, IBA57, HEPACAM, OCLN, ERCC8, EARS2 , (...)

View the complete list with 134 more genes
Specificity
9 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

EEF1B2, UBR7, PARP1, CAPN10, SLC31A1, TRMT1, PGAP2, GMPPA, TANGO2, IMPA1, RALGDS, ZBTB40, KCNK9, SETD1A, HERC2, TM4SF20, AHDC1, CCDC88A, ACBD6, KDM5A , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
62 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...)

View the complete list with 391 more genes
Specificity
3 %
Genes
93 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center in Germany.

UTP4, SLC27A5, ALAD, MYO5B, NR1H4, HMBS, UROD, PEX11B, SLCO1B3, SLCO1B1, HSD3B7, NOTCH2, EPHX1, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, UROS , (...)

View the complete list with 49 more genes
Specificity
18 %
Genes
93 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...)

View the complete list with 577 more genes
Specificity
3 %
Genes
93 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

GATAD2B, CUL7, SPECC1L, IRF6, CCNQ, ROR2, CCND2, HEPACAM, TBC1D7, KPTN, WNT5A, SRCAP, UBR1, C2CD3, TCTN3, NOTCH2, PACS1, EPG5, ERCC8, AKT1 , (...)

View the complete list with 323 more genes
Specificity
2 %
Genes
47 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

PACS1, EPG5, ERCC8, AKT1, AKT3, PIK3R2, INSR, IDH1, ALX1, GNAQ, PIK3CA, CPLANE1, KIF7, GNAS, TRIM37, EFTUD2, EFNB1, EP300, TBX5, SALL4 , (...)

View the complete list with 322 more genes
Specificity
2 %
Genes
47 %
Zellweger syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2
Specificity
100 %
Genes
93 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX10
Specificity
100 %
Genes
8 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...)

View the complete list with 1185 more genes
Specificity
2 %
Genes
100 %
Peroxisomal Disorder Panel.

By CeGaT GmbH in Germany.

PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, ABCD1, AMACR
Specificity
82 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

RPIA, POLH, NOP56, XPC, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, XPA, TRNT1, PMPCA, RUBCN, SLC9A1, STUB1 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
16 %
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel.

By CeGaT GmbH in Germany.

TBCK, NADK2, PLEKHG2, VPS11, ISCA2, DARS, AIMP1, PEX11B, COL4A2, FAM126A, PSAT1, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, SLC25A1, IBA57, HEPACAM , (...)

View the complete list with 155 more genes
Specificity
8 %
Genes
100 %
Peroxisomal Disorders Panel.

By CeGaT GmbH in Germany.

PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, ABCD1, AMACR
Specificity
82 %
Genes
100 %
Single gene testing PEX10.

By CeGaT GmbH in Germany.

PEX10
Specificity
100 %
Genes
8 %
Leukodystrophy / Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

TBCK, PLEKHG2, VPS11, DARS, AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, RARS, BCAP31, PYCR2, HEPACAM, EARS2, TREM2, CSF1R, CTC1, RNASET2, ADAR , (...)

View the complete list with 56 more genes
Specificity
18 %
Genes
100 %
Ataxia, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

CWF19L1, SNX14, PMPCA, RUBCN, SLC9A1, STUB1, RNF216, PIK3R5, GRID2, ATCAY, ATP2B3, ATP8A2, UBA5, CA8, DNAJC3, MARS2, CP, KIF1C, PEX10, PNKP , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
8 %
Zellweger Spectrum Disorders.

By Asper Biogene Asper Biogene LLC in Estonia.

PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, PHYH
Specificity
86 %
Genes
93 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

CLP1, TUBGCP6, SEPSECS, AMPD2, CEP63, KNL1, CEP135, LAMB1, SNAP29, ERMARD, KIF2A, KIF5C, TUBB, TUBG1, RTTN, TBC1D20, CCND2, ZNF423, OCLN, TCTN3 , (...)

View the complete list with 125 more genes
Specificity
8 %
Genes
85 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, ACBD5, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, ADAMTS18, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1 , (...)

View the complete list with 267 more genes
Specificity
5 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

CKAP4, DGKQ, RHEX, OR2W3, CEP250, SLC4A7, MIR204, IFT81, HMX1, RDH11, TUB, RGS9BP, PLA2G5, VCAN, PEX11B, KIAA1549, ADGRA3, TRNT1, ITM2B, RTN4IP1 , (...)

View the complete list with 248 more genes
Specificity
5 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

MPP3, FTCD, ADK, CTH, HAL, HGD, WNT10A, SLC6A19, TPO, SLC5A5, DUOX2, DUOXA2, PAX8, HJV, HOGA1, TFR2, COL7A1, SLC39A4, ARL13B, FANCA , (...)

View the complete list with 280 more genes
Specificity
1 %
Genes
24 %
Invitae Zellweger Spectrum Disorder Panel.

By Invitae in United States.

PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2, ACOX1, HSD17B4, AMACR
Specificity
80 %
Genes
93 %
Leukodistrophy.

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

AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, HEPACAM, TREM2, CSF1R, RNASET2, SLC16A2, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14 , (...)

View the complete list with 38 more genes
Specificity
23 %
Genes
100 %
Peroxisomal disorders.

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

ABCD3, PEX11B, GNPAT, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, ACOX1, PHYH, ABCD1, AGPS , (...)

View the complete list with 4 more genes
Specificity
55 %
Genes
100 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2
Specificity
93 %
Genes
100 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SLC27A5, NR1H4, CYP7A1, PEX11B, HSD3B7, NOTCH2, CLDN1, ABCC2, BAAT, VIPAS39, VPS33B, AKR1D1, ABCG8, ABCG5, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3 , (...)

View the complete list with 37 more genes
Specificity
23 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

XPC, XPA, ERCC5, GSS, MEFV, NEU1, PEX12, PEX10, PEX26, FUCA1, PEX6, VPS13B, TMEM216, DPYD, PKHD1, PHGDH, LAMC2, CLN5, ABCC8, TTPA , (...)

View the complete list with 120 more genes
Specificity
5 %
Genes
47 %
Zellweger syndrome spectrum, PEX10-related.

By Integrated Genetics Westborough Integrated Genetics in United States.

PEX10
Specificity
100 %
Genes
8 %
Lysosomal Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ACY1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19 , (...)

View the complete list with 86 more genes
Specificity
11 %
Genes
85 %
Peroxisomal NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ABCD3, PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, ACOX1, PHYH, ABCD1, AGPS, DNM1L , (...)

View the complete list with 1 more genes
Specificity
62 %
Genes
100 %
Zellweger Syndrome NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2
Specificity
100 %
Genes
100 %
Nuclear-Mito NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

CNR1, CHDH, CLYBL, NIPSNAP3A, IDE, IMMT, LETM1, MAVS, RAB11FIP5, POLRMT, PTGES2, PPARGC1A, AS3MT, ACSM3, ACSL5, DMAC2, ATP10D, NDUFB1, HK2, ECI1 , (...)

View the complete list with 484 more genes
Specificity
3 %
Genes
100 %
PEX10.

By Fulgent Genetics Fulgent Genetics in United States.

PEX10
Specificity
100 %
Genes
8 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ARMC9, REEP6, IFT81, PRDM13, CAPN5, HMX1, ADAMTS18, RDH11, TUB, PCYT1A, RGS9BP, PLA2G5, ATOH7, VCAN, PEX11B, CEP78, SAMD11, ARHGEF18, CWC27, RTN4IP1 , (...)

View the complete list with 240 more genes
Specificity
5 %
Genes
100 %
Lysosomal Disorders and Mucopolysaccharidosis Panel.

By Blueprint Genetics in Finland.

ACY1, MAN1B1, SLC46A1, PGK1, GNPTG, DYM, ANTXR2, ADAMTSL2, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13 , (...)

View the complete list with 82 more genes
Specificity
9 %
Genes
70 %
Cholestasis Panel.

By Blueprint Genetics in Finland.

SPINT2, MYO5B, NR1H4, SLC26A3, LCT, CREB3L3, HSD3B7, NOTCH2, TTC37, ABCC2, BAAT, VIPAS39, VPS33B, NEUROG3, LMF1, AKR1D1, PEX5, PEX12, PEX10, PEX26 , (...)

View the complete list with 26 more genes
Specificity
16 %
Genes
54 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

PRKAG3, NIPA2, GLUL, SLC6A9, SLC25A26, ADK, GMPPA, TANGO2, COQ5, COQ7, MOCOS, FLAD1, CTH, DPYS, UPB1, ALAD, ABCD3, STT3A, STT3B, NGLY1 , (...)

View the complete list with 414 more genes
Specificity
3 %
Genes
100 %
Peroxisomal Disorders Panel.

By Blueprint Genetics in Finland.

ABCD3, PEX11B, TRIM37, GNPAT, DYM, EBP, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, SUGCT , (...)

View the complete list with 7 more genes
Specificity
49 %
Genes
100 %
Zellweger syndrome.

By Bioarray in Spain.

PEX10
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 6B.

By Bioarray in Spain.

PEX10
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 6A.

By Bioarray in Spain.

PEX10
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX10
Specificity
100 %
Genes
8 %
CarrierMap.

By Recombine in United States.

VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...)

View the complete list with 281 more genes
Specificity
2 %
Genes
31 %
ZELLWEGER SYNDROME – NGS –PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

PEX5, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX2
Specificity
100 %
Genes
85 %
Zellweger Syndrome Type 6A , Sequencing PEX10 Gene.

By Reference Laboratory Genetics in Spain.

PEX10
Specificity
100 %
Genes
8 %
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes.

By Reference Laboratory Genetics in Spain.

AIMP1, PEX11B, FAM126A, POLR3B, POLR3A, LMNB1, HEPACAM, TREM2, CSF1R, RNASET2, SLC16A2, PEX5, PEX12, PEX10, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6 , (...)

View the complete list with 36 more genes
Specificity
22 %
Genes
93 %
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes.

By Reference Laboratory Genetics in Spain.

AGXT2, FAR1, PEX11B, TRIM37, GNPAT, GNPTG, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14 , (...)

View the complete list with 58 more genes
Specificity
17 %
Genes
100 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

AMPD3, PEX11B, TNNT3, MTMR14, TNNI2, GLE1, AMPD1, PLEKHG5, RYR2, LAMP2, CHRNG, PEX5, PEX12, PEX10, PEX26, PEX3, PEX14, CACNA1C, PEX6, ITGA7 , (...)

View the complete list with 91 more genes
Specificity
10 %
Genes
77 %
Zellweger Syndrome , Panel Massive Sequencing (NGS) 14 Genes.

By Reference Laboratory Genetics in Spain.

PEX11B, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2
Specificity
93 %
Genes
100 %
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes.

By Reference Laboratory Genetics in Spain.

PCK1, GNPAT, GNPTG, HYAL1, NAGA, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, MFSD8, DNAJC5, CTSF , (...)

View the complete list with 62 more genes
Specificity
15 %
Genes
93 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, BTK, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1 , (...)

View the complete list with 139 more genes
Specificity
2 %
Genes
16 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, DPYD, TGM1, RAPSN, PKHD1, PLA2G6, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1 , (...)

View the complete list with 129 more genes
Specificity
2 %
Genes
16 %
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR, NARS2, TRIOBP, TMIE, TFAP2A, TJP2, S1PR2, SLC26A5 , (...)

View the complete list with 151 more genes
Specificity
2 %
Genes
16 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

LOXL3, KITLG, CRYL1, MITF, CATSPER2, GPSM2, MT-RNR1, GRXCR2, SYNE4, ELMOD3, TMEM132E, EPS8L2, OTOGL, CEACAM16, DIAPH3, POLR1D, TPRN, GRXCR1, LOXHD1, TSPEAR , (...)

View the complete list with 132 more genes
Specificity
2 %
Genes
16 %
Hypospadias Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

PTDSS1, PDE4D, CUL7, MAMLD1, SPECC1L, IRF6, FRAS1, MAP3K1, WNT7A, DNMT3B, HOXA13, FREM2, ESCO2, GRIP1, UBR1, EPG5, B3GLCT, BMP4, RBBP8, EVC2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
8 %
PEX1. Sequencing of the exons 13, 15, 18 and 19.

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

PEX1
Specificity
100 %
Genes
8 %
PEX1. Complete sequencing.

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

PEX1
Specificity
100 %
Genes
8 %
Zellweger syndrome (sequence analysis of PEX1 gene).

By CGC Genetics in Portugal.

PEX1
Specificity
100 %
Genes
8 %
Zellweger syndrome (deletion/duplication analysis of PEX1 gene).

By CGC Genetics in Portugal.

PEX1
Specificity
100 %
Genes
8 %
Zellweger syndrome (deletion/duplication analysis of PEX1 gene).

By CGC Genetics in Portugal.

PEX1
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PEX1
Specificity
100 %
Genes
8 %
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, GALNTL5, ZMYND15, SUN5, TEX11, SLC26A8, SEPT12, NPAS2, TAF4B, PLCZ1, KLHL10, INSL3, CFAP43, CFAP44, BRDT, CBX2 , (...)

View the complete list with 186 more genes
Specificity
1 %
Genes
8 %
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHD4, TOE1, ATF3, BNC2, HHAT, INSL3, CBX2, AKR1C4, DMRT2, DMRT1, HOXA4, HOXB6, BMP7, MCM9, HS6ST1, NR3C1, TWIST2, TRAIP, KISS1, PTDSS1 , (...)

View the complete list with 138 more genes
Specificity
1 %
Genes
8 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX1
Specificity
100 %
Genes
8 %
Refsum disease panel.

By Centogene AG - the Rare Disease Company in Germany.

PEX26, PEX1, PEX7, PEX2, PHYH
Specificity
60 %
Genes
24 %
Usher Syndrome Panel.

By CeGaT GmbH in Germany.

PEX6, CIB2, PEX1, MYO7A, HARS, CDH23, WHRN, PCDH15, USH2A, CLRN1, ADGRV1, PDZD7, USH1C, USH1G, ABHD12
Specificity
14 %
Genes
16 %
Refsum Disease Panel.

By CeGaT GmbH in Germany.

PEX5, PEX26, PEX3, PEX1, PEX7, PEX2, PHYH
Specificity
72 %
Genes
39 %
Single gene testing PEX1.

By CeGaT GmbH in Germany.

PEX1
Specificity
100 %
Genes
8 %
PEX1 - Zellweger Syndorme spectrum.

By Centre for Inherited Metabolic Diseases Karolinska University Hospital in Sweden.

PEX1
Specificity
100 %
Genes
8 %
Zellweger syndrome, PEX1 sequencing.

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

PEX1
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 1A (Zellweger).

By Praxis fuer Humangenetik Wien in Austria.

PEX1
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 1B.

By Praxis fuer Humangenetik Wien in Austria.

PEX1
Specificity
100 %
Genes
8 %
Family Prep Screen.

By Counsyl in United States.

BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
8 %
Peroxisome biogenesis disorder 1B.

By MedGene in Slovakia.

PEX1
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 1A (Zellweger).

By MedGene in Slovakia.

PEX1
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX1-Related: PEX1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX1
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX1-Related: PEX1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX1
Specificity
100 %
Genes
8 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
8 %
Zellweger Syndrome Spectrum, PEX1-Related, includes Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, and Zellweger Syndrome (PEX1).

By Integrated Genetics Westborough Integrated Genetics in United States.

PEX1
Specificity
100 %
Genes
8 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RGS9BP, VCAN, VSX2, RPGRIP1L, RBP4, HMCN1, CDH3, CNNM4, RAX2, UNC119, COL11A1, COL9A1, TREX1, AHI1, TTPA, PEX1, PEX7, PEX2, MTTP, ROM1 , (...)

View the complete list with 118 more genes
Specificity
2 %
Genes
16 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

EFHC2, CELSR1, GPHN, SLC6A5, GLRA1, GLRB, SCN10A, BUB1B, MAPK10, COL18A1, ACY1, MED17, SNAP29, LIG4, NHEJ1, SLC46A1, ARL13B, RPGRIP1L, PGK1, SCN4B , (...)

View the complete list with 323 more genes
Specificity
3 %
Genes
62 %
Neuromuscular NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

AMPD3, TNNI2, AMPD1, RYR2, PEX5, PEX12, PEX26, PEX3, PEX14, PEX6, ITGA7, COL6A1, LARGE1, COL6A3, COL6A2, LAMA2, SIL1, SGCD, TCAP, POMT1 , (...)

View the complete list with 30 more genes
Specificity
16 %
Genes
62 %
Retinitis Pigmentosa NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RPGRIP1L, GNPTG, PEX26, PEX1, PEX7, PEX2, ROM1, RBP3, PRPF3, NR2E3, MAK, RP9, BBS2, BBS1, BBS4, BBS10, BBS9, BBS12, BBS5, BBS7 , (...)

View the complete list with 68 more genes
Specificity
4 %
Genes
24 %
PEX1.

By Fulgent Genetics Fulgent Genetics in United States.

PEX1
Specificity
100 %
Genes
8 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

RANGAP1, EFHC2, CELSR1, NIPA2, UBR5, VDAC1, BRD2, RBFOX3, KPNA7, CNTN2, ARHGEF15, PIK3AP1, FASN, RYR3, GABBR2, HCN2, TNK2, SRGAP2, GPHN, SLC12A5 , (...)

View the complete list with 427 more genes
Specificity
2 %
Genes
62 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

WBP2, FDXR, RMND1, CEP78, SLC52A3, SLC52A2, LRP2, MGP, SLC29A3, DCAF17, GJA1, SALL4, MITF, GPSM2, RPS6KA3, PEX26, GRXCR2, SYNE4, ELMOD3, TMEM132E , (...)

View the complete list with 159 more genes
Specificity
2 %
Genes
24 %
Usher Syndrome Panel.

By Blueprint Genetics in Finland.

CEP78, CIB2, PEX1, MYO7A, HARS, CDH23, WHRN, PCDH15, USH2A, CLRN1, ADGRV1, PDZD7, USH1C, USH1G, ABHD12
Specificity
7 %
Genes
8 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

FDXR, SLC52A3, SLC52A2, LRP2, MGP, DCAF17, GJA1, MITF, PEX26, POLR1D, TFAP2A, SEMA3E, PEX6, MYH9, GATA3, FOXI1, FGF3, CHSY1, SLITRK6, SIX1 , (...)

View the complete list with 66 more genes
Specificity
4 %
Genes
24 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

REEP6, TUB, PLA2G5, SAMD11, ARHGEF18, CWC27, ADIPOR1, ARL2BP, NEK2, SLC7A14, KIZ, PRPF4, WDR19, ZNF408, AGBL5, RBP4, SPP2, DHX38, CTNNA1, IFT140 , (...)

View the complete list with 90 more genes
Specificity
2 %
Genes
16 %
Zellweger syndrome.

By Bioarray in Spain.

PEX1
Specificity
100 %
Genes
8 %
ZELLWEGER SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

PEX12, PEX26, PEX6, PEX1, PEX2
Specificity
100 %
Genes
39 %
Zellweger Syndrome Type 1A , Sequencing PEX1 Gene.

By Reference Laboratory Genetics in Spain.

PEX1
Specificity
100 %
Genes
8 %
Refsum Disease , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

PEX26, PEX1, PEX2, PHYH
Specificity
75 %
Genes
24 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
8 %
PEX6. Complete sequencing.

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

PEX6
Specificity
100 %
Genes
8 %
PEX6. Sequencing of the exon 1.

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

PEX6
Specificity
100 %
Genes
8 %
Zellweger syndrome (sequence analysis of PEX6 gene).

By CGC Genetics in Portugal.

PEX6
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX6 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PEX6
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX6
Specificity
100 %
Genes
8 %
Single gene testing PEX6.

By CeGaT GmbH in Germany.

PEX6
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX6-Related: PEX6 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX6
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX6-Related: PEX6 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX6
Specificity
100 %
Genes
8 %
Zellweger syndrome spectrum, PEX6-related.

By Integrated Genetics Westborough Integrated Genetics in United States.

PEX6
Specificity
100 %
Genes
8 %
PEX6.

By Fulgent Genetics Fulgent Genetics in United States.

PEX6
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 4A.

By Bioarray in Spain.

PEX6
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 4B.

By Bioarray in Spain.

PEX6
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX6
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX6
Specificity
100 %
Genes
8 %
Zellweger Syndrome Type 4A , Sequencing PEX6 Gene.

By Reference Laboratory Genetics in Spain.

PEX6
Specificity
100 %
Genes
8 %
PEX14. Complete sequencing.

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

PEX14
Specificity
100 %
Genes
8 %
Zellweger syndrome (sequence analysis of PEX14 gene).

By CGC Genetics in Portugal.

PEX14
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX14 Gene.

By PreventionGenetics PreventionGenetics in United States.

PEX14
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX14
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX14-Related: PEX14 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX14
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX14-Related: PEX14 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX14
Specificity
100 %
Genes
8 %
PEX14.

By Fulgent Genetics Fulgent Genetics in United States.

PEX14
Specificity
100 %
Genes
8 %
Chondrodysplasia Punctata Panel.

By Blueprint Genetics in Finland.

ARSE, GNPAT, NSDHL, EBP, PEX19, PEX14, LBR, PEX7, AGPS
Specificity
23 %
Genes
16 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

IRS1, CKAP2L, LONP1, NANS, EXTL3, DLL4, TBX4, KIF22, ADAMTS17, ACAN, PAPSS2, NOG, ENAM, TBX6, DVL1, LTBP3, XYLT1, IHH, IGFALS, BHLHA9 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
16 %
Peroxisome biogenesis disorder 13A.

By Bioarray in Spain.

PEX14
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX14
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX14
Specificity
100 %
Genes
8 %
Zellweger Syndrome Type 13A , Sequencing PEX14 Gene.

By Reference Laboratory Genetics in Spain.

PEX14
Specificity
100 %
Genes
8 %
PEX12. Complete sequencing.

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

PEX12
Specificity
100 %
Genes
8 %
PEX12. Sequencing of the exons 2 and 3.

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

PEX12
Specificity
100 %
Genes
8 %
Zellweger syndrome (sequence analysis of PEX12 gene).

By CGC Genetics in Portugal.

PEX12
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX12 Gene.

By PreventionGenetics PreventionGenetics in United States.

PEX12
Specificity
100 %
Genes
8 %
Neuropathy.

By MGZ Medical Genetics Center in Germany.

KLHL13, MICAL1, SH3BP4, LARS, CLP1, DCAF8, ATL3, SCN11A, IFRD1, FAM126A, ARHGEF10, NGF, RETREG1, SCN10A, CHCHD10, SLC52A3, SLC52A2, AAAS, ABCA1, COX10 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
8 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX12
Specificity
100 %
Genes
8 %
Single gene testing PEX12.

By CeGaT GmbH in Germany.

PEX12
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 3A (Zellweger syndrome).

By Praxis fuer Humangenetik Wien in Austria.

PEX12
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 3A (Zellweger syndrome).

By MedGene in Slovakia.

PEX12
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX12-Related: PEX12 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX12
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX12-Related: PEX12 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX12
Specificity
100 %
Genes
8 %
Zellweger syndrome spectrum, PEX12-related.

By Integrated Genetics Westborough Integrated Genetics in United States.

PEX12
Specificity
100 %
Genes
8 %
PEX12.

By Fulgent Genetics Fulgent Genetics in United States.

PEX12
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX12
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 3A.

By Bioarray in Spain.

PEX12
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX12
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 3B.

By Bioarray in Spain.

PEX12
Specificity
100 %
Genes
8 %
Zellweger Syndrome Type 3A , Sequencing PEX12 Gene.

By Reference Laboratory Genetics in Spain.

PEX12
Specificity
100 %
Genes
8 %
PEX19. Complete sequencing.

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

PEX19
Specificity
100 %
Genes
8 %
Zellweger syndrome (sequence analysis of PEX19 gene).

By CGC Genetics in Portugal.

PEX19
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX19 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PEX19
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX19
Specificity
100 %
Genes
8 %
PEX19.

By Fulgent Genetics Fulgent Genetics in United States.

PEX19
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 12A.

By Bioarray in Spain.

PEX19
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX19
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX19
Specificity
100 %
Genes
8 %
Zellweger Syndrome Type 12A , Sequencing PEX19 Gene.

By Reference Laboratory Genetics in Spain.

PEX19
Specificity
100 %
Genes
8 %
PEX13. Complete sequencing.

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

PEX13
Specificity
100 %
Genes
8 %
Zellweger syndrome (sequence analysis of PEX13 gene).

By CGC Genetics in Portugal.

PEX13
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via PEX13 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PEX13
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX13
Specificity
100 %
Genes
8 %
PEX13.

By Fulgent Genetics Fulgent Genetics in United States.

PEX13
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 11A.

By Bioarray in Spain.

PEX13
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX13
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX13
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 11B.

By Bioarray in Spain.

PEX13
Specificity
100 %
Genes
8 %
Zellweger Syndrome Type 11A , Sequencing PEX13 Gene.

By Reference Laboratory Genetics in Spain.

PEX13
Specificity
100 %
Genes
8 %
PEX26. Sequencing of the exons 2 and 3.

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

PEX26
Specificity
100 %
Genes
8 %
PEX26. Complete sequencing.

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

PEX26
Specificity
100 %
Genes
8 %
Zellweger syndrome (sequence analysis of PEX26 gene).

By CGC Genetics in Portugal.

PEX26
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX26 Gene.

By PreventionGenetics PreventionGenetics in United States.

PEX26
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX26
Specificity
100 %
Genes
8 %
Single gene testing PEX26.

By CeGaT GmbH in Germany.

PEX26
Specificity
100 %
Genes
8 %
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
8 %
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
8 %
Zellweger syndrome spectrum, PEX26-related.

By Integrated Genetics Westborough Integrated Genetics in United States.

PEX26
Specificity
100 %
Genes
8 %
PEX26.

By Fulgent Genetics Fulgent Genetics in United States.

PEX26
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 7B.

By Bioarray in Spain.

PEX26
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX26
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX26
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 7A.

By Bioarray in Spain.

PEX26
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 14B (sequence analysis of PEX11B gene).

By CGC Genetics in Portugal.

PEX11B
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX11B Gene.

By PreventionGenetics PreventionGenetics in United States.

PEX11B
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 14B.

By Centogene AG - the Rare Disease Company in Germany.

PEX11B
Specificity
100 %
Genes
8 %
PEX11B.

By Fulgent Genetics Fulgent Genetics in United States.

PEX11B
Specificity
100 %
Genes
8 %
PEX5. Complete sequencing.

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

PEX5
Specificity
100 %
Genes
8 %
Zellweger syndrome (sequence analysis of PEX5 gene).

By CGC Genetics in Portugal.

PEX5
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX5 Gene.

By PreventionGenetics PreventionGenetics in United States.

PEX5
Specificity
100 %
Genes
8 %
Chondrodysplasia punctata and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FAR1, ARSE, MGP, GNPAT, NSDHL, EBP, PEX5, LBR, PEX7, AGPS
Specificity
10 %
Genes
8 %
Chondrodysplasia punctata and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FAR1, ARSE, MGP, GNPAT, NSDHL, EBP, PEX5, LBR, PEX7, AGPS
Specificity
10 %
Genes
8 %
Chondrodysplasia punctata and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

FAR1, ARSE, MGP, GNPAT, NSDHL, EBP, PEX5, LBR, PEX7, AGPS
Specificity
10 %
Genes
8 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX5
Specificity
100 %
Genes
8 %
Single gene testing PEX5.

By CeGaT GmbH in Germany.

PEX5
Specificity
100 %
Genes
8 %
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
8 %
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
8 %
PEX5.

By Fulgent Genetics Fulgent Genetics in United States.

PEX5
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX5
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 2A.

By Bioarray in Spain.

PEX5
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX5
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 2b.

By Bioarray in Spain.

PEX5
Specificity
100 %
Genes
8 %
Zellweger Syndrome Type 2A , Sequencing PEX5 Gene.

By Reference Laboratory Genetics in Spain.

PEX5
Specificity
100 %
Genes
8 %
PEX16. Complete sequencing.

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

PEX16
Specificity
100 %
Genes
8 %
Zellweger syndrome (sequence analysis of PEX16 gene).

By CGC Genetics in Portugal.

PEX16
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX16 Gene.

By PreventionGenetics PreventionGenetics in United States.

PEX16
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX16
Specificity
100 %
Genes
8 %
PEX16.

By Fulgent Genetics Fulgent Genetics in United States.

PEX16
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX16
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 8B.

By Bioarray in Spain.

PEX16
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 8A.

By Bioarray in Spain.

PEX16
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX16
Specificity
100 %
Genes
8 %
Zellweger Syndrome Type 8A , Sequencing PEX16 Gene.

By Reference Laboratory Genetics in Spain.

PEX16
Specificity
100 %
Genes
8 %
GeneAware Ashkenazi Jewish Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DMD, DHCR7, BLM, GBA , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
8 %
GeneAware Ashkenazi Jewish Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, RTEL1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
8 %
PEX2. Complete sequencing.

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

PEX2
Specificity
100 %
Genes
8 %
Zellweger syndrome (sequence analysis of PEX2 gene).

By CGC Genetics in Portugal.

PEX2
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX2 Gene.

By PreventionGenetics PreventionGenetics in United States.

PEX2
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX2
Specificity
100 %
Genes
8 %
Single gene testing PEX2.

By CeGaT GmbH in Germany.

PEX2
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX2-Related: PEX2 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX2
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX2-Related: PEX2 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX2
Specificity
100 %
Genes
8 %
Inheritest NGS, Ashkenazi Jewish Ancestry Panel.

By Integrated Genetics Westborough Integrated Genetics in United States.

TMEM216, PKHD1, PHGDH, ABCC8, SUMF1, MPL, MCOLN1, SLC35A3, PEX2, NEB, MTTP, FKTN, COL4A3, ADAMTS2, SMN1, DHCR7, BLM, GBA, FANCC, CFTR , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
8 %
Zellweger spectrum disorder, PEX2-related.

By Integrated Genetics Westborough Integrated Genetics in United States.

PEX2
Specificity
100 %
Genes
8 %
PEX2.

By Fulgent Genetics Fulgent Genetics in United States.

PEX2
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX2
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 5B.

By Bioarray in Spain.

PEX2
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX2
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 5A.

By Bioarray in Spain.

PEX2
Specificity
100 %
Genes
8 %
Zellweger Syndrome Type 5A , Sequencing PEX2 Gene.

By Reference Laboratory Genetics in Spain.

PEX2
Specificity
100 %
Genes
8 %
PEX3. Complete sequencing.

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

PEX3
Specificity
100 %
Genes
8 %
Zellweger syndrome (sequence analysis of PEX3 gene).

By CGC Genetics in Portugal.

PEX3
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum via the PEX3 Gene.

By PreventionGenetics PreventionGenetics in United States.

PEX3
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Centogene AG - the Rare Disease Company in Germany.

PEX3
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX3-Related: PEX3 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX3
Specificity
100 %
Genes
8 %
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum, PEX3-Related: PEX3 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PEX3
Specificity
100 %
Genes
8 %
PEX3.

By Fulgent Genetics Fulgent Genetics in United States.

PEX3
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX3
Specificity
100 %
Genes
8 %
Zellweger syndrome.

By Bioarray in Spain.

PEX3
Specificity
100 %
Genes
8 %
Peroxisome biogenesis disorder 10A.

By Bioarray in Spain.

PEX3
Specificity
100 %
Genes
8 %
Zellweger Syndrome Type 10A , Sequencing PEX3 Gene.

By Reference Laboratory Genetics in Spain.

PEX3
Specificity
100 %
Genes
8 %

Alternate names

Peroxisome Biogenesis Disorder 1b; Pbd1b Is also known as peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease), peroxisome biogenesis disorder (nald/ird), adrenoleukodystrophy, autosomal neonatal, refsum disease, infantile, infantile phytanic acid storage disease;ird.


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