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.

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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

SOURCES: ORPHANET OMIM

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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: ORPHANET OMIM

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

SOURCES: ORPHANET MESH OMIM

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

SOURCES: OMIM ORPHANET

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). ReviewsWarner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment. Genetic Heterogeneity of Parkinson DiseaseSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM ) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA ), respectively, on 4q22; PARK5 (OMIM ), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM ), caused by mutation in the LRRK2 gene (OMIM ) on 12q12; PARK11 (OMIM ), caused by mutation in the GIGYF2 gene (OMIM ) on 2q37; PARK13 (OMIM ), caused by mutation in the HTRA2 gene (OMIM ) on 2p13; PARK17 (OMIM ), caused by mutation in the VPS35 gene (OMIM ) on 16q11; and PARK18 (OMIM ), caused by mutation in the EIF4G1 gene (OMIM ) on 3q27.Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM ), caused by mutation in the gene encoding parkin (PARK2 ) on 6q26; PARK6 (OMIM ), caused by mutation in the PINK1 gene (OMIM ) on 1p36; PARK7 (OMIM ), caused by mutation in the DJ1 gene (PARK7 ) on 1p36; PARK14 (OMIM ), caused by mutation in the PLA2G6 gene (OMIM ) on 22q13; PARK15 (OMIM ), caused by mutation in the FBXO7 gene (OMIM ) on 22q12-q13; PARK19A (OMIM ) and PARK19B (see {615528}), caused by mutation in the DNAJC6 gene (OMIM ) on 1p32; and PARK20 (OMIM ), caused by mutation in the SYNJ1 gene (OMIM ) on 21q22.PARK3 (OMIM ) has been mapped to chromosome 2p13; PARK10 (OMIM ) has been mapped to chromosome 1p34-p32; PARK16 (OMIM ) has been mapped to chromosome 1q32. See also PARK21 (OMIM ). A locus on the X chromosome has been identified (PARK12 ). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see {556500}). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM ), MAPT (OMIM ), MC1R (OMIM ), ADH1C (OMIM ), and genes at the HLA locus (see, e.g., HLA-DRA, {142860}). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect (Hamza et al., 2010).Susceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM ), ATXN3 (OMIM ), TBP (OMIM ), and ATXN8OS (OMIM ) genes.

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


Potential gene panels for GBA gene

Ashkenazic Genetic Disease Screen (with Cystic Fibrosis) Panel

United States.

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

United States.

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

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GBA gene.

More info about this panel

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

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

GeneAware Ashkenazi Jewish Panel Version 2 (Female) Panel

United States.

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

United States.

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

United States.

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

United States.

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

More info about this panel

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

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

Gaucher Disease Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the GBA gene.

More info about this panel

Gaucher disease Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the GBA gene.

More info about this panel

Ashkenazi Jewish Carrier Screening Panel Panel

United States.

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

More info about this panel

Test for Gaucher Disease Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the GBA gene.

More info about this panel

Movement Disorders Panel Panel

United States.

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

More info about this panel

Parkinson's Disease Panel

United States.

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

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the GBA gene.

More info about this panel

GBA Sequencing Panel

United States.

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.

More info about this panel

Gaucher Disease Panel

United States.

By Molecular Genetics Columbia University

This panel specifically test the GBA gene.

More info about this panel

GBA Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the GBA gene.

More info about this panel

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

Gaucher Disease (GBA), 8 Variants Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the GBA gene.

More info about this panel

Gaucher Disease 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 GBA gene.

More info about this panel

GBA mutation analysis Panel

Netherlands.

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

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GBA gene.

More info about this panel

GBA. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the GBA gene.

More info about this panel

CHOP Comprehensive Hereditary Cancer Panel Panel

United States.

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

More info about this panel

Gaucher disease (sequence analysis of GBA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GBA gene.

More info about this panel

Parkinson disease (NGS panel for 33 genes) Panel

Portugal.

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

Portugal.

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

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

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

Gaucher disease Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the GBA gene.

More info about this panel

Gaucher Disease via the GBA Gene Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GBA gene.

More info about this panel

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

Parkinson Disease Sequencing Panel with CNV Detection Panel

United States.

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

More info about this panel

Parkinson Disease and Parkinsonism Sequencing Panel with CNV Detection Panel

United States.

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

More info about this panel

Thrombocytopenia NGS Panel Panel

United States.

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

United States.

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

United States.

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

United States.

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

United States.

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

United States.

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

Germany.

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

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

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

Ashkenazi panel (advanced) Panel

Germany.

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

More info about this panel

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

Gaucher disease Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GBA gene.

More info about this panel

Parkinsons disease panel Panel

Germany.

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

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

Parkinson Syndrome, autosomal dominant Panel Panel

Germany.

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

More info about this panel

Parkinson all Panel Panel

Germany.

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

More info about this panel

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

Single gene testing GBA Panel

Germany.

By CeGaT GmbH

This panel specifically test the GBA gene.

More info about this panel

Gaucher`s Disease Panel

Poland.

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

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the GBA gene.

More info about this panel

Ashkenazi Jewish diseases Panel

Estonia.

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

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

Gaucher disease, GBA sequencing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the GBA gene.

More info about this panel

Gaucher disease Panel

United States.

By Cytogenetics and Molecular Diagnostics Lab CGC Genetics USA

This panel specifically test the GBA gene.

More info about this panel

Family Prep Screen Panel

United States.

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

More info about this panel

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

Gaucher disease: GBA gene mutations analysis (N370S, L444P, 84GG, IVS2+1) Panel

Spain.

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

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the GBA gene.

More info about this panel

NGS panel - Parkinson Panel

Netherlands.

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

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the GBA gene.

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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

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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

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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

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Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel Panel

United States.

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

United States.

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

United States.

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

United States.

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

United States.

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

United States.

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

United States.

By Integrated Genetics Westborough Integrated Genetics

This panel specifically test the GBA gene.

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Ashkenazi Jewish Carrier Testing Panel

United States.

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

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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

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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

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Intellectual Disability NGS Panel Panel

United States.

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

United States.

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

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GBA gene.

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Gaucher Disease, DNA Mutation Analysis Panel

United States.

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

United States.

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

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

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Arthrogryposes Panel Panel

Finland.

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

Finland.

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

United States.

By Insight Medical Genetics

This panel specifically test the GBA gene.

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Gaucher disease type 2 Panel

Spain.

By Bioarray

This panel specifically test the GBA gene.

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Fetal Gaucher disease Panel

Spain.

By Bioarray

This panel specifically test the GBA gene.

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Gaucher disease - ophthalmoplegia - cardiovascular calcification Panel

Spain.

By Bioarray

This panel specifically test the GBA gene.

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Baby Genes Targeted Panel Panel

United States.

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

United States.

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

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GBA gene.

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PARKINSON NGS PANEL Panel

Spain.

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

Spain.

By Reference Laboratory Genetics

This panel specifically test the GBA gene.

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Gaucher Disease Type 2 , Sequencing GBA Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the GBA gene.

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Gaucher Disease Type 1, Sequencing GBA Gene Panel

Spain.

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

Spain.

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

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

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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

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Gaucher Disease: GBA gene sequencing Panel

India.

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

United States.

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

United States.

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

United States.

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

United States.

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

More info about this panel

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

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

Canada.

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

More info about this panel

Gaucher disease Type II: Full gene sequencing (Rapid testing) Panel

Canada.

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

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the GBA gene.

More info about this panel

Gaucher disease Type IIIC: Full gene sequencing (Rapid testing) Panel

Canada.

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

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the GBA gene.

More info about this panel

Perinatal lethal Gaucher disease: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the GBA gene.

More info about this panel

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


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