GLB1 gene related symptoms and diseases
All the information presented here about the GLB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GLB1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Decreased beta-galactosidase activity | Common - Between 50% and 80% cases |
| Kyphosis | Common - Between 50% and 80% cases |
| Platyspondyly | Uncommon - Between 30% and 50% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Ataxia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GLB1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Spasticity
- Neurodegeneration
- Short stature
- Scoliosis
- Blindness
- Rigidity
- Intellectual disability
- Vacuolated lymphocytes
And 166 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GLB1 gene
Here you will find a list of rare diseases related to the GLB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MUCOPOLYSACCHARIDOSIS TYPE 4B
Alternate names
MUCOPOLYSACCHARIDOSIS TYPE 4B Is also known as beta-d-galactosidase deficiency, mps4b, mpsivb, morquio disease type b, mucopolysaccharidosis type ivb
More info about MUCOPOLYSACCHARIDOSIS TYPE 4B
SOURCES: ORPHANET
MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B
Alternate names
MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B Is also known as morquio syndrome b, mps ivb
Description
Mucopolysaccharidosis type IVB is an autosomal recessive disorder characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal. There is increased urinary keratan sulfate excretion (Suzuki et al., 2001).See mucopolysaccharidosis type IVA (OMIM ), also known as Morquio syndrome A, a genetically distinct disorder with overlapping clinical features caused by mutation in the GALNS gene (OMIM ) on chromosome 16q24.There may also be a nonkeratansulfate-excreting form of Morquio syndrome, so-called type C (OMIM ).
Most common symptoms of MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B
- Short stature
- Hearing impairment
- Scoliosis
- Pain
- Hepatomegaly
More info about MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B
SOURCES: OMIM
GM1 GANGLIOSIDOSIS TYPE 3
Alternate names
GM1 GANGLIOSIDOSIS TYPE 3 Is also known as gangliosidosis, generalized gm1, type iii, gangliosidosis, generalized gm1, type 3, adult-onset gm1 gangliosidosis, gangliosidosis, generalized gm1, adult type, gangliosidosis, generalized gm1, chronic type
Description
GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.
Most common symptoms of GM1 GANGLIOSIDOSIS TYPE 3
- Intellectual disability
- Seizures
- Short stature
- Scoliosis
- Ataxia
More info about GM1 GANGLIOSIDOSIS TYPE 3
GM1 GANGLIOSIDOSIS TYPE 1
Alternate names
GM1 GANGLIOSIDOSIS TYPE 1 Is also known as norman-landing disease, infantile gm1 gangliosidosis
Description
GM1 gangliosidosis type 1 is the severe infantile form of GM1 gangliosidosis (see this term) with variable neurological and systemic manifestations.
More info about GM1 GANGLIOSIDOSIS TYPE 1
SOURCES: ORPHANET
GM1-GANGLIOSIDOSIS, TYPE I
Alternate names
GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1, gangliosidosis, generalized gm1, type i, glb1 deficiency, gangliosidosis, generalized gm1, infantile form, beta-galactosidase-1 deficiency
Description
GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).
Most common symptoms of GM1-GANGLIOSIDOSIS, TYPE I
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Scoliosis
More info about GM1-GANGLIOSIDOSIS, TYPE I
GM1 GANGLIOSIDOSIS TYPE 2
Alternate names
GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis, gangliosidosis, generalized gm1, type ii, juvenile gm1 gangliosidosis, gangliosidosis, generalized gm1, type 2, gangliosidosis, generalized gm1, juvenile type
Description
GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.
Most common symptoms of GM1 GANGLIOSIDOSIS TYPE 2
- Seizures
- Global developmental delay
- Ataxia
- Muscle weakness
- Abnormal facial shape
More info about GM1 GANGLIOSIDOSIS TYPE 2
Search interest in GLB1
Potential gene panels for GLB1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
Non-immune Hydrops Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Non-immune Hydrops Panel that also includes the following genes: RIT1 RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 SEC23B
More info about this panel United States.
Lysosomal Storage Disease Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1
More info about this panel United States.
GM1 gangliosidosis Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the GLB1 gene.
More info about this panel United States.
Morquio Syndrome B Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the GLB1 gene.
More info about this panel United States.
Dystonia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Lysosomal Storage Disease Panel Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel Argentina.
Mucopolysaccharidosis type IVB Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
This panel specifically test the GLB1 gene.
More info about this panel Czech Republic.
GM1 gangliosidosis Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
This panel specifically test the GLB1 gene.
More info about this panel Czech Republic.
GLB1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GLB1 gene.
More info about this panel Spain.
GLB1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GLB1 gene.
More info about this panel Spain.
GM1 Gangliosidosis (sequence analysis of GLB1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GLB1 gene.
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Mucopolysaccharidosis IVB (sequence analysis of GLB1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GLB1 gene.
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Mucopolysaccharidosis IVB (sequence analysis of GLB1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GLB1 gene.
More info about this panel Portugal.
GM1 gangliosidosis. Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the GLB1 gene.
More info about this panel India.
GM1 Gangliodisosis and Mucopolysaccharidosis Type IVB / Morquio Type B via GLB1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GLB1 gene.
More info about this panel United States.
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection that also includes the following genes: RIT1 SCN5A SLC17A5 BRAF SOS1 CBL SHOC2 KAT6B CHRNA1 CHRND
More info about this panel United States.
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection that also includes the following genes: SCP2 AIMP1 SDHB SLC16A2 SLC17A5 SLC25A1 SLC25A12 SLC25A4 SOX10 SPG11
More info about this panel United States.
Mucopolysaccharidosis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Mucopolysaccharidosis Deletion / Duplication panel that also includes the following genes: SGSH MCOLN1 GNPTG HGSNAT GNPTAB GALNS GLB1 GNS GUSB HYAL1
More info about this panel United States.
Mucopolysaccharidosis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Mucopolysaccharidosis Comprehensive panel that also includes the following genes: SGSH MCOLN1 GNPTG HGSNAT GNPTAB GALNS GLB1 GNS GUSB HYAL1
More info about this panel United States.
Mucopolysaccharidosis NGS panel Panel
United States.
By Connective Tissue Gene Tests Mucopolysaccharidosis NGS panel that also includes the following genes: SGSH MCOLN1 GNPTG HGSNAT GNPTAB GALNS GLB1 GNS GUSB HYAL1
More info about this panel United States.
Hypertrophic cardiomyopathy - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hypertrophic cardiomyopathy - different panels that also includes the following genes: RIT1 MRPL3 RRAS SLC22A5 BRAF SOS1 SOS2 SURF1 TNNI3 TNNT2
More info about this panel Germany.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
GM1-gangliosidosis Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GLB1 gene.
More info about this panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Mucopolysaccharidosis type IVB Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GLB1 gene.
More info about this panel Germany.
GM1-gangliosidosis type I Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GLB1 gene.
More info about this panel Germany.
GM1-gangliosidosis type II Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GLB1 gene.
More info about this panel Germany.
Lysosomal Disorders Panel Panel
Germany.
By CeGaT GmbH Lysosomal Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 SUMF1 GNPTG HGSNAT GNPTAB AGA
More info about this panel Germany.
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panel Germany.
Lysosomal Disorders Panel Panel
Germany.
By CeGaT GmbH Lysosomal Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 SUMF1 GNPTG HGSNAT GNPTAB AGA
More info about this panel Germany.
Ataxia and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
More info about this panel Germany.
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10
More info about this panel Germany.
Single gene testing GLB1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the GLB1 gene.
More info about this panel Germany.
Gangliosidosis Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the GLB1 gene.
More info about this panel Poland.
Lysosomal Storage Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Lysosomal Storage Disease that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel Estonia.
Inherited Cardiovascular Diseases and Sudden Death Panel Panel
Spain.
By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA
More info about this panel Spain.
Dilated Cardiomyopathy Panel Panel
Spain.
By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP
More info about this panel Spain.
Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel
Spain.
By Health in Code Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SLC22A5 BRAF SLC25A4
More info about this panel Spain.
Cardiomyopathies Panel Panel
Spain.
By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1
More info about this panel Spain.
Hypertrophic Cardiomyopathy Extended Panel Panel
Spain.
By Health in Code Hypertrophic Cardiomyopathy Extended Panel that also includes the following genes: MRPL3 RYR2 SLC22A5 BRAF SLC25A4 SOS1 SURF1 TAZ TCAP KLF10
More info about this panel Spain.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Arrhythmia General Panel Panel
Spain.
By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2
More info about this panel Spain.
Hypertrophic cardiomyopathy extended panel Panel
Spain.
By Health in Code Hypertrophic cardiomyopathy extended panel that also includes the following genes: MRPL3 RYR2 SCO2 SLC22A5 BRAF SLC25A3 SLC25A4 SOS1 SURF1 TAZ
More info about this panel Spain.
Cardiomyopathies General Panel Panel
Spain.
By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD
More info about this panel Spain.
GM1-gangliosidosis, type I Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the GLB1 gene.
More info about this panel Austria.
GM1-gangliosidosis, type II Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the GLB1 gene.
More info about this panel Austria.
GM1-gangliosidosis, type III Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the GLB1 gene.
More info about this panel Austria.
Mucopolysaccharidosis type IVB (Morquio) Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the GLB1 gene.
More info about this panel Austria.
GLB1 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the GLB1 gene.
More info about this panel Austria.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
GM1-gangliosidosis, type I Panel
Slovakia.
By MedGene
This panel specifically test the GLB1 gene.
More info about this panel Slovakia.
GM1-gangliosidosis, type II Panel
Slovakia.
By MedGene
This panel specifically test the GLB1 gene.
More info about this panel Slovakia.
GM1-gangliosidosis, type III Panel
Slovakia.
By MedGene
This panel specifically test the GLB1 gene.
More info about this panel Slovakia.
Mucopolysaccharidosis type IVB (Morquio) Panel
Slovakia.
By MedGene
This panel specifically test the GLB1 gene.
More info about this panel Slovakia.
Invitae Comprehensive Mucopolysaccharidoses (MPS) Panel Panel
United States.
By Invitae Invitae Comprehensive Mucopolysaccharidoses (MPS) Panel that also includes the following genes: SGSH HGSNAT GALNS GLB1 GNS GUSB HYAL1 IDS IDUA ARSB
More info about this panel United States.
Invitae Mucopolysaccharidosis Type IV (MPS IV) Panel Panel
United States.
By Invitae Invitae Mucopolysaccharidosis Type IV (MPS IV) Panel that also includes the following genes: GALNS GLB1
More info about this panel United States.
Invitae Comprehensive Lysosomal Storage Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Lysosomal Storage Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panel United States.
GM1-gangliosidosis, type I: GLB1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GLB1 gene.
More info about this panel Spain.
Mucopolysaccharidosis type 4B: GLB1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GLB1 gene.
More info about this panel Spain.
GM1 Gangliosidosis: GLB1 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the GLB1 gene.
More info about this panel United States.
GM1 Gangliosidosis: GLB1 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the GLB1 gene.
More info about this panel United States.
Mucopolysaccharidosis Type IVB: GLB1 Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the GLB1 gene.
More info about this panel United States.
Mucopolysaccharidosis Type IVB: GLB1 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the GLB1 gene.
More info about this panel United States.
Lysosomal Storage Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3
More info about this panel United States.
Inherited Metabolic Disorders: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panel United States.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
GM1 gangliosidosis and mucopolysaccharidosis, MPS-IV-B Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the GLB1 gene.
More info about this panel United States.
Inheritest NGS, Comprehensive Panel
United States.
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
Lysosomal Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
More info about this panel United States.
GLB1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GLB1 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panel United States.
Cardiomyopathy Panel Panel
Finland.
By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB
More info about this panel Finland.
Lysosomal Disorders and Mucopolysaccharidosis Panel Panel
Finland.
By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
More info about this panel Finland.
Comprehensive Cardiology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panel Finland.
Comprehensive Epilepsy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Epilepsy Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SCO1 AIMP1 ST3GAL3 ST3GAL5 SLC25A1
More info about this panel Finland.
Dilated Cardiomyopathy (DCM) Panel Panel
Finland.
By Blueprint Genetics Dilated Cardiomyopathy (DCM) Panel that also includes the following genes: SCN5A TAZ TBX20 TBX5 TCAP TNNC1 TNNI3 TNNT2 TPM1 TTN
More info about this panel Finland.
Mucopolysaccharidosis type IVB Panel
Spain.
By Bioarray
This panel specifically test the GLB1 gene.
More info about this panel Spain.
GM1 gangliosidosis type 1 Panel
Spain.
By Bioarray
This panel specifically test the GLB1 gene.
More info about this panel Spain.
GM1 GANGLIOSIDOSIS Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GLB1 gene.
More info about this panel Spain.
MUCOPOLYSACCHARIDOSIS TYPE 4B (MORQUIO SYNDROME TYPE B) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GLB1 gene.
More info about this panel Spain.
MUCOPOLYSACCHARIDOSIS – NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MUCOPOLYSACCHARIDOSIS – NGS PANEL that also includes the following genes: SGSH GNPTG HGSNAT GNPTAB GALNS GLB1 GNS GUSB HYAL1 IDS
More info about this panel Spain.
GM1 Gangliosidosis Type III , Sequencing GLB1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GLB1 gene.
More info about this panel Spain.
Mucopolysaccharidosis Type IVB , Sequencing GLB1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GLB1 gene.
More info about this panel Spain.
GM1 Gangliosidosis Type I , Sequencing GLB1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GLB1 gene.
More info about this panel Spain.
GM1 Gangliosidosis Type II , Sequencing GLB1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GLB1 gene.
More info about this panel Spain.
Mucopolysaccharidosis , Panel Massive Sequencing (NGS) 11 Genes Panel
Spain.
By Reference Laboratory Genetics Mucopolysaccharidosis , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SGSH HGSNAT GALNS GLB1 GNS GUSB HYAL1 IDS IDUA ARSB
More info about this panel Spain.
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
Spain.
By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5
More info about this panel Spain.
GM1 and GM2 Gangliosidosis, Panel Massive Sequencing (NGS) GLB1, GM2A, HEXA, HEXB Gene Panel
Spain.
By Reference Laboratory Genetics GM1 and GM2 Gangliosidosis, Panel Massive Sequencing (NGS) GLB1, GM2A, HEXA, HEXB Gene that also includes the following genes: GLB1 GM2A HEXA HEXB
More info about this panel Spain.
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
Spain.
By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1
More info about this panel Spain.
GM1 gangliosiodosis: GLB1 gene mutation study Panel
India.
By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
This panel specifically test the GLB1 gene.
More info about this panel India.
planTrue Extended Panel
United States.
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel United States.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
GLB1-Related Disorders: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GLB1 gene.
More info about this panel Canada.
GLB1-Related Disorders: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GLB1 gene.
More info about this panel Canada.
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