Gm1-gangliosidosis, Type Iii

Description

GM1-gangliosidosis type III is an autosomal recessive lysosomal storage disorder characterized by neurodegeneration and mild skeletal changes. Age at onset ranges from 3 to 30 years. The disorder is less severe than GM1-gangliosidosis types I and II (OMIM ). Type III shows extreme clinical variability, with some patients having only focal neurologic signs, such as dystonia, and others having more severe involvement with extrapyramidal signs and mental retardation. GLB1 enzymatic activity usually ranges from approximately 4 to 10% of control values (Suzuki et al., 2001).

Clinical Features

Top most frequent phenotypes and symptoms related to Gm1-gangliosidosis, Type Iii

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Cognitive impairment
  • Spasticity
  • Delayed speech and language development
  • Dysarthria
  • Skeletal muscle atrophy
And another 39 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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Gm1-gangliosidosis, Type Iii 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 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

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

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
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
2 %
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
2 %
Genes
100 %
GM1 gangliosidosis.

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

GLB1
Specificity
100 %
Genes
100 %
Morquio Syndrome B.

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

GLB1
Specificity
100 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
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 %
Lysosomal Storage Disease Panel.

By Molecular Genetics Laboratory London Health Sciences Centre in Canada.

GAA, PSAP, GNPTAB, GLB1, SMPD1, CTSD, GRN, HEXA, GM2A, HEXB, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA, MAN2B1 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Mucopolysaccharidosis type IVB.

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

GLB1
Specificity
100 %
Genes
100 %
GM1 gangliosidosis.

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

GLB1
Specificity
100 %
Genes
100 %
GLB1. Complete sequencing.

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

GLB1
Specificity
100 %
Genes
100 %
GLB1. Complete sequencing.

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

GLB1
Specificity
100 %
Genes
100 %
GM1 Gangliosidosis (sequence analysis of GLB1 gene).

By CGC Genetics in Portugal.

GLB1
Specificity
100 %
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
1 %
Genes
100 %
Mucopolysaccharidosis IVB (sequence analysis of GLB1 gene).

By CGC Genetics in Portugal.

GLB1
Specificity
100 %
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
1 %
Genes
100 %
Mucopolysaccharidosis IVB (sequence analysis of GLB1 gene).

By CGC Genetics in Portugal.

GLB1
Specificity
100 %
Genes
100 %
GM1 gangliosidosis..

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

GLB1
Specificity
100 %
Genes
100 %
GM1 Gangliodisosis and Mucopolysaccharidosis Type IVB / Morquio Type B via GLB1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

GLB1
Specificity
100 %
Genes
100 %
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
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 %
Mucopolysaccharidosis Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

GNPTAB, GLB1, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, ARSB, IDS, IDUA, MCOLN1, HYAL1, GNPTG
Specificity
8 %
Genes
100 %
Mucopolysaccharidosis Comprehensive panel.

By Connective Tissue Gene Tests in United States.

GNPTAB, GLB1, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, ARSB, IDS, IDUA, MCOLN1, HYAL1, GNPTG
Specificity
8 %
Genes
100 %
Mucopolysaccharidosis NGS panel.

By Connective Tissue Gene Tests in United States.

GNPTAB, GLB1, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, ARSB, IDS, IDUA, MCOLN1, HYAL1, GNPTG
Specificity
8 %
Genes
100 %
Hypertrophic cardiomyopathy - different panels.

By Institute of Human Genetics Cologne University in Germany.

TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22, TSFM , (...)

View the complete list with 45 more genes
Specificity
2 %
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 %
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
100 %
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
100 %
GM1-gangliosidosis.

By Centogene AG - the Rare Disease Company in Germany.

GLB1
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 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Mucopolysaccharidosis type IVB.

By Centogene AG - the Rare Disease Company in Germany.

GLB1
Specificity
100 %
Genes
100 %
GM1-gangliosidosis type I.

By Centogene AG - the Rare Disease Company in Germany.

GLB1
Specificity
100 %
Genes
100 %
GM1-gangliosidosis type II.

By Centogene AG - the Rare Disease Company in Germany.

GLB1
Specificity
100 %
Genes
100 %
Lysosomal Disorders Panel.

By CeGaT GmbH in Germany.

PSAP, GNPTAB, GLB1, SMPD1, HEXA, HEXB, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, GALC, AGA, ARSB, ARSA, IDS, IDUA, NPC1 , (...)

View the complete list with 9 more genes
Specificity
4 %
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 %
Lysosomal Disorders Panel.

By CeGaT GmbH in Germany.

PSAP, GNPTAB, GLB1, SMPD1, HEXA, HEXB, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, GALC, AGA, ARSB, ARSA, IDS, IDUA, NPC1 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 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 %
Single gene testing GLB1.

By CeGaT GmbH in Germany.

GLB1
Specificity
100 %
Genes
100 %
Gangliosidosis.

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

GLB1
Specificity
100 %
Genes
100 %
Lysosomal Storage Disease.

By Asper Biogene Asper Biogene LLC in Estonia.

GAA, PSAP, GNPTAB, GLB1, SMPD1, CTSD, HEXA, GM2A, HEXB, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA, MAN2B1, GALC , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Inherited Cardiovascular Diseases and Sudden Death Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, ACADM, AGL, ACADVL, ATPAF2, GAA, COL1A1, COL1A2, COL3A1, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP , (...)

View the complete list with 193 more genes
Specificity
1 %
Genes
100 %
Dilated Cardiomyopathy Panel.

By Health in Code in Spain.

HFE, TTR, GAA, PSEN1, EYA4, GLB1, DSP, CRYAB, RAF1, DNAJC19, TAZ, SLC22A5, ALMS1, DOLK, BRAF, DMD, GLA, PTPN11, FKTN, SGCA , (...)

View the complete list with 61 more genes
Specificity
2 %
Genes
100 %
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK , (...)

View the complete list with 121 more genes
Specificity
1 %
Genes
100 %
Cardiomyopathies Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, PSEN1, ELN, EYA4, GNPTAB, GLB1, PITX2, JAG1, DSP, DLD, SLC25A4, CRYAB, RAF1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Hypertrophic Cardiomyopathy Extended Panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATPAF2, GAA, GNPTAB, GLB1, DLD, SLC25A4, CRYAB, RAF1, MTO1, MRPL3, LIAS, AGK, TMEM70, FAH, MRPS22 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Cardiovascular Diseases_General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATP7A, ATPAF2, B4GALT7, GAA, HNF1A, NEUROD1, PPARG, COL1A1, COL1A2, COL3A1, ELAC2, PSEN1, HNF1B , (...)

View the complete list with 360 more genes
Specificity
1 %
Genes
100 %
Arrhythmia General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, PITX2, DSP, DLD, SLC25A4, FOXRED1, CRYAB , (...)

View the complete list with 198 more genes
Specificity
1 %
Genes
100 %
Hypertrophic cardiomyopathy extended panel.

By Health in Code in Spain.

TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1, MTO1, MRPL3, LIAS , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Cardiomyopathies General Panel.

By Health in Code in Spain.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, ATP5F1E, ATPAF2, GAA, ELAC2, PSEN1, EYA4, GNPTAB, GLB1, DSP, DLD, SLC25A4, FOXRED1, CRYAB, RAF1 , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
100 %
GM1-gangliosidosis, type I.

By Praxis fuer Humangenetik Wien in Austria.

GLB1
Specificity
100 %
Genes
100 %
GM1-gangliosidosis, type II.

By Praxis fuer Humangenetik Wien in Austria.

GLB1
Specificity
100 %
Genes
100 %
GM1-gangliosidosis, type III.

By Praxis fuer Humangenetik Wien in Austria.

GLB1
Specificity
100 %
Genes
100 %
Mucopolysaccharidosis type IVB (Morquio).

By Praxis fuer Humangenetik Wien in Austria.

GLB1
Specificity
100 %
Genes
100 %
GLB1.

By Division Human Genetics Medical University Innsbruck in Austria.

GLB1
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 %
GM1-gangliosidosis, type I.

By MedGene in Slovakia.

GLB1
Specificity
100 %
Genes
100 %
GM1-gangliosidosis, type II.

By MedGene in Slovakia.

GLB1
Specificity
100 %
Genes
100 %
GM1-gangliosidosis, type III.

By MedGene in Slovakia.

GLB1
Specificity
100 %
Genes
100 %
Mucopolysaccharidosis type IVB (Morquio).

By MedGene in Slovakia.

GLB1
Specificity
100 %
Genes
100 %
Invitae Comprehensive Mucopolysaccharidoses (MPS) Panel.

By Invitae in United States.

GLB1, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, ARSB, IDS, IDUA, HYAL1
Specificity
10 %
Genes
100 %
Invitae Mucopolysaccharidosis Type IV (MPS IV) Panel.

By Invitae in United States.

GLB1, GALNS
Specificity
50 %
Genes
100 %
Invitae Comprehensive Lysosomal Storage Disorders Panel.

By Invitae in United States.

GAA, PSAP, GNPTAB, GLB1, SMPD1, CTSD, GRN, HEXA, GM2A, HEXB, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA, MAN2B1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
GM1-gangliosidosis, type I: GLB1 gene sequence analysis.

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

GLB1
Specificity
100 %
Genes
100 %
Mucopolysaccharidosis type 4B: GLB1 gene sequence analysis.

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

GLB1
Specificity
100 %
Genes
100 %
GM1 Gangliosidosis: GLB1 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GLB1
Specificity
100 %
Genes
100 %
GM1 Gangliosidosis: GLB1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GLB1
Specificity
100 %
Genes
100 %
Mucopolysaccharidosis Type IVB: GLB1 Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GLB1
Specificity
100 %
Genes
100 %
Mucopolysaccharidosis Type IVB: GLB1 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GLB1
Specificity
100 %
Genes
100 %
Lysosomal Storage Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, PSAP, GNPTAB, GLB1, GNE, SMPD1, FBN1, CTSD, GRN, HEXA, GM2A, HEXB, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Inherited Metabolic Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, PC, GYS2, HLCS, ATPAF2, AUH, BCKDHA, BCKDHB, GAA, MMACHC, MTR, SLC37A4, MTRR , (...)

View the complete list with 81 more genes
Specificity
1 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
100 %
GM1 gangliosidosis and mucopolysaccharidosis, MPS-IV-B.

By Integrated Genetics Westborough Integrated Genetics in United States.

GLB1
Specificity
100 %
Genes
100 %
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
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
1 %
Genes
100 %
GLB1.

By Fulgent Genetics Fulgent Genetics in United States.

GLB1
Specificity
100 %
Genes
100 %
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 %
Cardiomyopathy Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 135 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
1 %
Genes
100 %
Comprehensive Cardiology Panel.

By Blueprint Genetics in Finland.

HFE, TTR, AARS2, ACAD9, AGL, ACADVL, GAA, ELAC2, CPT2, GLB1, TRIM32, DSP, SLC25A4, FOXRED1, NDUFAF2, CRYAB, HADHA, RAF1, VCP, MTO1 , (...)

View the complete list with 165 more genes
Specificity
1 %
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 %
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 %
Dilated Cardiomyopathy (DCM) Panel.

By Blueprint Genetics in Finland.

TTR, GLB1, DSP, RAF1, PCCB, PCCA, TAZ, MLYCD, GBE1, ETFB, ETFA, ETFDH, ALMS1, DOLK, DMD, FKTN, LMNA, DYSF, TTN, DES , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Mucopolysaccharidosis type IVB.

By Bioarray in Spain.

GLB1
Specificity
100 %
Genes
100 %
GM1 gangliosidosis type 1.

By Bioarray in Spain.

GLB1
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 %
GM1 GANGLIOSIDOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

GLB1
Specificity
100 %
Genes
100 %
MUCOPOLYSACCHARIDOSIS TYPE 4B (MORQUIO SYNDROME TYPE B).

By Laboratorio de Genetica Clinica SL in Spain.

GLB1
Specificity
100 %
Genes
100 %
MUCOPOLYSACCHARIDOSIS – NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

GNPTAB, GLB1, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, ARSB, IDS, IDUA, HYAL1, GNPTG
Specificity
8 %
Genes
100 %
GM1 Gangliosidosis Type III , Sequencing GLB1 Gene.

By Reference Laboratory Genetics in Spain.

GLB1
Specificity
100 %
Genes
100 %
Mucopolysaccharidosis Type IVB , Sequencing GLB1 Gene.

By Reference Laboratory Genetics in Spain.

GLB1
Specificity
100 %
Genes
100 %
GM1 Gangliosidosis Type I , Sequencing GLB1 Gene.

By Reference Laboratory Genetics in Spain.

GLB1
Specificity
100 %
Genes
100 %
GM1 Gangliosidosis Type II , Sequencing GLB1 Gene.

By Reference Laboratory Genetics in Spain.

GLB1
Specificity
100 %
Genes
100 %
Mucopolysaccharidosis , Panel Massive Sequencing (NGS) 11 Genes.

By Reference Laboratory Genetics in Spain.

GLB1, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, ARSB, IDS, IDUA, HYAL1
Specificity
10 %
Genes
100 %
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
2 %
Genes
100 %
GM1 and GM2 Gangliosidosis, Panel Massive Sequencing (NGS) GLB1, GM2A, HEXA, HEXB Gene.

By Reference Laboratory Genetics in Spain.

GLB1, HEXA, GM2A, HEXB
Specificity
25 %
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 %
GM1 gangliosiodosis: GLB1 gene mutation study.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

GLB1
Specificity
100 %
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 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
100 %

Alternate names

Gm1-gangliosidosis, Type Iii Is also known as gangliosidosis, generalized gm1, adult type, gangliosidosis, generalized gm1, chronic type, gangliosidosis, generalized gm1, type iii, gangliosidosis, generalized gm1, type 3;adult-onset gm1 gangliosidosis.


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