GBA gene related symptoms and diseases
All the information presented here about the GBA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GBA gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Common - Between 50% and 80% cases |
Hepatomegaly | Common - Between 50% and 80% cases |
Hepatosplenomegaly | Common - Between 50% and 80% cases |
Dementia | Common - Between 50% and 80% cases |
Splenomegaly | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with GBA gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Strabismus
- Dysphagia
- Pancytopenia
- Ataxia
- Spasticity
- Thrombocytopenia
- Depressivity
- Rigidity
And 438 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GBA gene
Here you will find a list of rare diseases related to the GBA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DEMENTIA, LEWY BODY; DLB
Alternate names
DEMENTIA, LEWY BODY; DLB Is also known as lewy body dementia, diffuse lewy body disease
Description
Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations, falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically, Lewy bodies are present in a pattern more widespread than usually observed in Parkinson disease (see PD; {168600}). Alzheimer disease (AD )-associated pathology and spongiform changes may also be seen (McKeith et al., 1996; Mizutani, 2000; McKeith et al., 2005).
Most common symptoms of DEMENTIA, LEWY BODY; DLB
- Cognitive impairment
- Dysarthria
- Depressivity
- Pneumonia
- Dementia
More info about DEMENTIA, LEWY BODY; DLB
FAMILIAL DYSAUTONOMIA
Alternate names
FAMILIAL DYSAUTONOMIA Is also known as dysautonomia, familial, dys, hereditary sensory and autonomic neuropathy type iii, hereditary sensory and autonomic neuropathy type 3, hsan3, hsan iii, fd, riley-day syndrome
Description
Hereditary sensory and autonomic neuropathy, type 3 (HSAN3) is an inherited disorder characterized by sensory dysfunction and severe impairment of the autonomic nervous system activity, resulting in multisystem dysfunction.
Most common symptoms of FAMILIAL DYSAUTONOMIA
- Seizures
- Generalized hypotonia
- Scoliosis
- Ataxia
- Growth delay
More info about FAMILIAL DYSAUTONOMIA
GAUCHER DISEASE TYPE 3
Alternate names
GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease, cerebral juvenile and adult form of gaucher disease, gaucher disease, subacute neuronopathic type
Description
Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).
Most common symptoms of GAUCHER DISEASE TYPE 3
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Scoliosis
More info about GAUCHER DISEASE TYPE 3
SOURCES: ORPHANET
GAUCHER DISEASE TYPE 2
Alternate names
GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease, acute neuronopathic gaucher disease
Description
Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.
Most common symptoms of GAUCHER DISEASE TYPE 2
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Scoliosis
More info about GAUCHER DISEASE TYPE 2
SOURCES: ORPHANET
GAUCHER DISEASE TYPE 1
Alternate names
GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral, gd iii, gaucher disease, chronic neuronopathic type, non-cerebral juvenile gaucher disease, gaucher disease, subacute neuronopathic type
Description
Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.
Most common symptoms of GAUCHER DISEASE TYPE 1
- Seizures
- Global developmental delay
- Short stature
- Scoliosis
- Ataxia
More info about GAUCHER DISEASE TYPE 1
GAUCHER DISEASE, TYPE II
Alternate names
GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type, gd ii
Description
Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).
Most common symptoms of GAUCHER DISEASE, TYPE II
- Seizures
- Global developmental delay
- Failure to thrive
- Strabismus
- Spasticity
More info about GAUCHER DISEASE, TYPE II
SOURCES: OMIM
GAUCHER DISEASE, TYPE I
Alternate names
GAUCHER DISEASE, TYPE I Is also known as gd i, glucocerebrosidase deficiency, acid beta-glucosidase deficiency, gba deficiency, gaucher disease, noncerebral juvenile
Description
Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.
Most common symptoms of GAUCHER DISEASE, TYPE I
- Seizures
- Generalized hypotonia
- Ataxia
- Failure to thrive
- Strabismus
More info about GAUCHER DISEASE, TYPE I
SOURCES: OMIM
FETAL GAUCHER DISEASE
Alternate names
FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease, gaucher disease, collodion type
Description
Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).
Most common symptoms of FETAL GAUCHER DISEASE
- Seizures
- Generalized hypotonia
- Microcephaly
- Hypertelorism
- Micrognathia
More info about FETAL GAUCHER DISEASE
GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME
Alternate names
GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease, gaucher-like disease, gaucher disease type 3c
Description
Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.
Most common symptoms of GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
- Strabismus
More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME
PARKINSON DISEASE, LATE-ONSET; PD
Alternate names
PARKINSON DISEASE, LATE-ONSET; PD Is also known as park
Description
Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996).
Most common symptoms of PARKINSON DISEASE, LATE-ONSET; PD
- Ataxia
- Cognitive impairment
- Dysarthria
- Tremor
- Dysphagia
More info about PARKINSON DISEASE, LATE-ONSET; PD
SOURCES: OMIM
HEREDITARY LATE-ONSET PARKINSON DISEASE
Alternate names
HEREDITARY LATE-ONSET PARKINSON DISEASE Is also known as autosomal dominant late-onset parkinson disease, lopd
Description
Hereditary late-onset Parkinson disease (LOPD) is a form of Parkinson disease (PD), characterized by an age of onset of more than 50 years, tremor at rest, gait complaints and falls, bradykinesia, rigidity and painful cramps. Patients usually present a low risk of developing non motor symptoms, dystonia, dyskinesia and levodopa-induced dyskinesia (LID).
Most common symptoms of HEREDITARY LATE-ONSET PARKINSON DISEASE
- Dysphagia
- Dystonia
- Depressivity
- Dementia
- Cerebral cortical atrophy
More info about HEREDITARY LATE-ONSET PARKINSON DISEASE
SOURCES: ORPHANET
Search interest in GBA
Potential gene panels for GBA gene
Ashkenazic Genetic Disease Screen (with Cystic Fibrosis) Panel

By Baylor Miraca Genetics Laboratories Ashkenazic Genetic Disease Screen (with Cystic Fibrosis) that also includes the following genes: SMPD1 FANCC GBA ELP1 ASPA
More info about this panel
Ashkenazic Genetic Disease Screen (without Cystic Fibrosis) Panel

By Baylor Miraca Genetics Laboratories Ashkenazic Genetic Disease Screen (without Cystic Fibrosis) that also includes the following genes: SMPD1 FANCC GBA ELP1 ASPA
More info about this panel
Gaucher Disease Ashkenazic Mutation Panel Panel

By Baylor Miraca Genetics Laboratories
This panel specifically test the GBA gene.
More info about this panel
GeneAware Complete Panel Version 2 (Female) Panel

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
GeneAware Complete Panel Version 2 (Male) Panel

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
GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Female) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panel
GeneAware ACMG/ACOG Panel Version 2 (Male) Panel

By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Male) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB
More info about this panel
GeneAware Ashkenazi Jewish Panel Version 2 (Male) Panel

By Baylor Miraca Genetics Laboratories GeneAware Ashkenazi Jewish Panel Version 2 (Male) that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 RTEL1 CFTR SUMF1
More info about this panel
GeneAware ACMG/ACOG Panel Version 2 (Female) Panel

By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Female) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR DMD FANCC FMR1 GBA HBA1
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Non-immune Hydrops Panel Panel

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
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Lysosomal Storage Disease Panel Panel

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
Gaucher Disease Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the GBA gene.
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Gaucher disease Panel

By Center for Human Genetics, Inc
This panel specifically test the GBA gene.
More info about this panel
Ashkenazi Jewish Carrier Screening Panel Panel

By Center for Human Genetics, Inc Ashkenazi Jewish Carrier Screening Panel that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 TMEM216 DLD F11 FANCC FKTN
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Test for Gaucher Disease Panel

By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the GBA gene.
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Movement Disorders Panel Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX
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Parkinson's Disease Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Parkinson's Disease that also includes the following genes: SLC6A3 SNCA TAF1 TH VPS35 FBXO7 PINK1 PARK7 LRRK2 CSF1R
More info about this panel
Gaucher Disease, DNA analysis Panel

By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the GBA gene.
More info about this panel
GBA Sequencing Panel

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the GBA gene.
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Gaucher Disease Panel

By Molecular Genetics Columbia University
This panel specifically test the GBA gene.
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GBA Panel

By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the GBA gene.
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Lysosomal Storage Disease Panel Panel

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
Gaucher Disease (GBA), 8 Variants Panel

By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the GBA gene.
More info about this panel
Gaucher Disease Panel

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 GBA gene.
More info about this panel
GBA mutation analysis Panel

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the GBA gene.
More info about this panel
GBA. Detection of the mutations p.Asn370Ser, p.Leu444Pro, c.93_94insG and c.27 1G>A by sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GBA gene.
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GBA. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GBA gene.
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CHOP Comprehensive Hereditary Cancer Panel Panel

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
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Gaucher disease (sequence analysis of GBA gene) Panel

By CGC Genetics
This panel specifically test the GBA gene.
More info about this panel
Parkinson disease (NGS panel for 33 genes) Panel

By CGC Genetics Parkinson disease (NGS panel for 33 genes) that also includes the following genes: SLC6A3 SNCA SNCAIP SNCB SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel
Gaucher disease (frequent mutations on GBA gene) Panel

By CGC Genetics
This panel specifically test the GBA gene.
More info about this panel
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

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
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel

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
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Gaucher disease Panel

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the GBA gene.
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Gaucher Disease via the GBA Gene Panel

By PreventionGenetics PreventionGenetics
This panel specifically test the GBA gene.
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Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection Panel

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
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Parkinson Disease Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Parkinson Disease Sequencing Panel with CNV Detection that also includes the following genes: SLC6A3 SNCA SPR SYNJ1 TAF1 GIGYF2 UCHL1 VPS35 FBXO7 HTRA2
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Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection that also includes the following genes: SLC20A2 SLC6A3 SNCA SNCB SPG11 SPR SYNJ1 TAF1 TARDBP TWNK
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Thrombocytopenia NGS Panel Panel

By Connective Tissue Gene Tests Thrombocytopenia NGS Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST
More info about this panel
Platelet bleeding disorders NGS panel Panel

By Connective Tissue Gene Tests Platelet bleeding disorders NGS panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panel
Thrombocytopenia Deletion / Duplication Panel Panel

By Connective Tissue Gene Tests Thrombocytopenia Deletion / Duplication Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST
More info about this panel
Platelet bleeding disorders Deletion / Duplication panel Panel

By Connective Tissue Gene Tests Platelet bleeding disorders Deletion / Duplication panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panel
Thrombocytopenia Comprehensive Panel Panel

By Connective Tissue Gene Tests Thrombocytopenia Comprehensive Panel that also includes the following genes: RUNX1 SMPD1 SRC TBXAS1 WAS WIPF1 ADAMTS13 TUBB1 MASTL LYST
More info about this panel
Platelet bleeding disorders Comprehensive panel Panel

By Connective Tissue Gene Tests Platelet bleeding disorders Comprehensive panel that also includes the following genes: SMPD1 TBXA2R TBXAS1 VWF WAS WIPF1 GP6 HPS3 HPS4 ACTN1
More info about this panel
Neurogenetic Disorders - panels Panel

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panel
Mental Retardation and Dysmorphology - panels Panel

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
Syndromal Diseases - panels Panel

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
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Ashkenazi panel (advanced) Panel

By Centogene AG - the Rare Disease Company Ashkenazi panel (advanced) that also includes the following genes: BLM CLRN1 MCOLN1 PCDH15 CFTR DLD FANCC G6PC GBA HEXA
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AllNeuro panel Panel

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
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Gaucher disease Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the GBA gene.
More info about this panel
Parkinsons disease panel Panel

By Centogene AG - the Rare Disease Company Parkinsons disease panel that also includes the following genes: SLC6A3 SNCA SNCB SPR SYNJ1 TAF1 TH GIGYF2 UCHL1 VPS35
More info about this panel
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

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
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Parkinson Syndrome, autosomal dominant Panel Panel

By CeGaT GmbH Parkinson Syndrome, autosomal dominant Panel that also includes the following genes: SNCA VPS35 HTRA2 LRRK2 CHCHD2 DNAJC13 EIF4G1 GBA PRKAR1B RAB29
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Parkinson all Panel Panel

By CeGaT GmbH Parkinson all Panel that also includes the following genes: ATXN2 SLC6A3 SNCA SPG11 SPR SYNJ1 TAF1 TH VPS35 FBXO7
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Ataxia and differential diagnoses Panel Panel

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1
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Single gene testing GBA Panel

By CeGaT GmbH
This panel specifically test the GBA gene.
More info about this panel
Gaucher`s Disease Panel

By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the GBA gene.
More info about this panel
Gaucher Disease (GBA) Panel

By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the GBA gene.
More info about this panel
Ashkenazi Jewish diseases Panel

By Asper Biogene Asper Biogene LLC Ashkenazi Jewish diseases that also includes the following genes: BLM BRCA1 BRCA2 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 LRRK2 CFTR
More info about this panel
Lysosomal Storage Disease Panel

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
Gaucher disease, GBA sequencing Panel

By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the GBA gene.
More info about this panel
Gaucher disease Panel

By Cytogenetics and Molecular Diagnostics Lab CGC Genetics USA
This panel specifically test the GBA gene.
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Family Prep Screen Panel

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
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qCarrier Plus Panel

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
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Gaucher disease: GBA gene mutations analysis (N370S, L444P, 84GG, IVS2+1) Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GBA gene.
More info about this panel
Gaucher disease: GBA gene sequence analysis Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GBA gene.
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NGS panel - Parkinson Panel

By Genome Diagnostics VU University Medical Center NGS panel - Parkinson that also includes the following genes: ATXN2 SLC18A2 SLC6A3 SNCA SPR SYNJ1 TAF1 TH GIGYF2 UCHL1
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Gaucher Disease: GBA Gene Sequencing Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the GBA gene.
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Lysosomal Storage Disorders: Sequencing Panel Panel

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
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Inherited Metabolic Disorders: Sequencing Panel Panel

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
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Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

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
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Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
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ACOG/ACMG Carrier Screen: Gene Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics ACOG/ACMG Carrier Screen: Gene Sequencing Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HEXA ELP1 ASPA
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ACOG/ACMG Carrier Screen: Targeted Mutation Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics ACOG/ACMG Carrier Screen: Targeted Mutation Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HEXA ELP1 ASPA
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Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
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Inheritest NGS, Society Guided Panel Panel

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Society Guided Panel that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC FMR1 GBA HBB HEXA
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Inheritest NGS, Ashkenazi Jewish Ancestry Panel Panel

By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Ashkenazi Jewish Ancestry Panel that also includes the following genes: BLM SLC35A3 SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR SUMF1 DHDDS
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Gaucher Disease Panel

By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the GBA gene.
More info about this panel
Ashkenazi Jewish Carrier Testing Panel

By Integrated Genetics Westborough Integrated Genetics Ashkenazi Jewish Carrier Testing that also includes the following genes: BLM SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC FKTN
More info about this panel
Inheritest NGS, Comprehensive Panel

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
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Lysosomal Disorders NGS Panel Panel

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
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Intellectual Disability NGS Panel Panel

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
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Parkinson-Alzheimer-Dementia NGS Panel Panel

By Fulgent Genetics Fulgent Genetics Parkinson-Alzheimer-Dementia NGS Panel that also includes the following genes: SLC6A3 SNCA SNCB TAF1 TH TYROBP UCHL1 VPS35 FBXO7 AAAS
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GBA Panel

By Fulgent Genetics Fulgent Genetics
This panel specifically test the GBA gene.
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Gaucher Disease, DNA Mutation Analysis Panel

By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the GBA gene.
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Gaucher Disease, DNA Mutation Analysis (NY) Panel

By Quest Diagnostics Nichols Institute San Juan Capistrano
This panel specifically test the GBA gene.
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Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
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Arthrogryposes Panel Panel

By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
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Comprehensive Metabolism Panel Panel

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
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Gaucher disease Panel

By Insight Medical Genetics
This panel specifically test the GBA gene.
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Gaucher disease type 2 Panel

By Bioarray
This panel specifically test the GBA gene.
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Fetal Gaucher disease Panel

By Bioarray
This panel specifically test the GBA gene.
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Gaucher disease - ophthalmoplegia - cardiovascular calcification Panel

By Bioarray
This panel specifically test the GBA gene.
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Baby Genes Targeted Panel Panel

By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
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GBA Gene Sequencing and Deletion/Duplication Analysis Panel

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the GBA gene.
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GAUCHER DISEASE Panel

By Laboratorio de Genetica Clinica SL
This panel specifically test the GBA gene.
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PARKINSON NGS PANEL Panel

By Laboratorio de Genetica Clinica SL PARKINSON NGS PANEL that also includes the following genes: SLC6A3 SMPD1 SNCA SYNJ1 UCHL1 VPS35 FBXO7 HTRA2 PINK1 DNAJC6
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Gaucher Disease Type 3, Sequencing GBA Gene Panel

By Reference Laboratory Genetics
This panel specifically test the GBA gene.
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Gaucher Disease Type 2 , Sequencing GBA Gene Panel

By Reference Laboratory Genetics
This panel specifically test the GBA gene.
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Gaucher Disease Type 1, Sequencing GBA Gene Panel

By Reference Laboratory Genetics
This panel specifically test the GBA gene.
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Gaucher Disease Type 1, Mutations (N370S, L444P, 84GG, IVS2+1) GBA Gene Panel

By Reference Laboratory Genetics
This panel specifically test the GBA gene.
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Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel

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
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Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel

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
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Gaucher Disease: GBA gene sequencing Panel

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
This panel specifically test the GBA gene.
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planTrue Extended Panel

By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
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planTrue ACOG & ACMG Screen Panel

By True Health Diagnostics planTrue ACOG & ACMG Screen that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB
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planTrue Standard Panel

By True Health Diagnostics planTrue Standard that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
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planTrue Jewish Screen Panel

By True Health Diagnostics planTrue Jewish Screen that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
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CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
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CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
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Gaucher disease Type II: Full gene sequencing (Rapid testing) Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GBA gene.
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Gaucher disease Type III: Full gene sequencing (Rapid testing) Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GBA gene.
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Gaucher disease Type IIIC: Full gene sequencing (Rapid testing) Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GBA gene.
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Gaucher disease Type I: Full gene sequencing (Rapid testing) Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GBA gene.
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Perinatal lethal Gaucher disease: Full gene sequencing (Rapid testing) Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GBA gene.
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Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

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
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