GBA

OMIMHGNC

Synonym(s): GBA1, GLUC

Locus: 1q22

Protein: Glucosylceramidase

 

Disorders

Tests

Test Type
Biochemical (2)
Molecular (75)
Panel (39)
Test Method
Del/Dup (CNV) (2)
Mutation Scanning of Select Exons (2)
Mutation Scanning of Entire Coding Region (5)
Quantitative Biochemical Analysis (2)
Sequencing, Capillary (Sanger) (29)
Genotyping (Microarray, Beads, etc.) (16)
Uniparental Disomy (1)
Sequencing, Next Gen (34)
Prenatal/Carrier
Prenatal (18)
Carrier (37)
Lab Location
USA(38)
Estonia(1)
Netherlands(1)
Czech Republic(1)
Germany(12)
Spain(6)
Portugal(4)
Canada(9)
Korea, Republic of(1)
Poland(3)
Turkey(1)
Bulgaria(1)
 
TAT: 4-8 weeks
price: $940.00
Analysis GBA gene (Gaucher Disease)
method(s): ◦ Sequencing, Capillary (Sanger) 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
TAT: 3-5 weeks
price: contact lab
Gaucher Disease Test (GBA Gene Sequence)
method(s): ◦ Sequencing, Capillary (Sanger) 
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
Beta-glucosidase (GBA) Deficiency Test
method(s): ◦ Sequencing, Capillary (Sanger) 
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
TAT: 4-6 weeks
price: contact lab
Ashkenazi Jewish Carrier Multi-Gene Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
Ashkenazi Jewish Carrier Multi-Gene Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
TAT: 2-3 weeks
price: contact lab
Ashkenazi Jewish Carrier Multi-Gene Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Natera - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Ashkenazi Jewish Carrier Multi-Gene Expanded Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Natera - San Carlos, CA, USA
Gaucher diease test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 3 weeks
price: contact lab
GBA Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 3 weeks
price: contact lab
GBA Ashkenazi Jewish (p.N370S, p.L483P, p.L29fs, IVS2+1G>A) Genotyping
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 3-4 weeks
price: contact lab
Beta-Galactosidase-F
method(s): ◦ Quantitative Biochemical Analysis 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
Beta-Galactosidase-W
method(s): ◦ Quantitative Biochemical Analysis 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Gaucher Disease-Ashkenazic
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Ashkenazic Genetic Disease Screen (with CF)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Ashkenazic Genetic Disease Screen (without CF)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
Gaucher Disease (GBA)
method(s): ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 5-7 weeks
price: contact lab
Carrier Screening Panel: Ashkenazi Jewish
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 6-7 weeks
price: contact lab
Gaucher Disease: GBA Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 5-6 weeks
price: contact lab
Ashkenazi Jewish Carrier Screening Panel: DNA Only
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Lysosomal Storage Disorders: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-6 weeks
price: contact lab
Gaucher Disease
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Hospital for Sick Children, Genome Diagnostics Laboratory (formerly Molecular Genetics Laboratory) - Toronto, Canada
Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
Gaucher Disease, Full Gene Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
Gaucher Disease, Known Mutation
method(s): ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
Gaucher Disease, Molecular Analysis (Carrier Detection)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 3-4 weeks
price: $650.00
Gaucher Disease via the GBA Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 7-8 weeks
price: contact lab
NGS of 5 genes: ADH1C, GBA, MAPT, PDXK, SNCAIP
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 9-10 weeks
price: contact lab
NGS of 23 genes: ADH1C, ATP13A2, ATP1A3, DCTN1, EIF4G1, FBXO7, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PDXK, PINK1, PLA2G6, POLG1, SNCA, SNCAIP, SNCB, UCHL1, VPS35.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of the GBA gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 6-7 weeks
price: contact lab
Detection of mutations p.Asn409Ser, p.Val433Leu, p. Arg535His, pLeu29AlafsX18, p.Leu444Pro, c.IVS2+1G>A in the GBA gene
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Mutation Scanning of Select Exons 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 3-4 weeks
price: contact lab
GBA Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
TAT: 3-5 weeks
price: contact lab
nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 3-5 weeks
price: contact lab
devACT Clinical Management Panel, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
Gaucher Disease Type 1, Mutations (N370S, L444P, 84GG, IVS2+1) GBA Gene
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Barcelona, Spain
Gaucher Disease Types 1,2 and 3, Sequencing GBA Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 7-10 days
price: contact lab
Gaucher Disease
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: 7-10 days
price: contact lab
Ashkenazi Jewish Diseases (BLM, ASPA, IKBKAP, FANCC, GBA, MCOLN1, SMPD1, HEXA), Common Mutation Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 7-10 days
price: contact lab
Gaucher Disease (GBA) 8 Mutations
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 7-10 days
price: contact lab
Gaucher Disease (GBA) 8 Mutations, Fetal
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Metabolic Storage Disorders Panel Sequencing, 51 Genes
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Neurodegenerative Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
GBA
method(s): ◦ Sequencing, Capillary (Sanger) 
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany
Comprehensive Panel: Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Gaucher disease (sequence analysis of GBA gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 2-3 weeks
price: contact lab
Horizon Panethnic Carrier Screen
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Natera - San Carlos, CA, USA
TAT: 3-4 weeks
price: contact lab
Gaucher Disease Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
LysoSEEK - Lysosomal Storage Disease Panel
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 2-3 days
price: contact lab
Baby Genes Newborn Screening Panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Mutation Scanning of Select Exons ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
Baby Genes Inc - Golden, CO, USA
Gaucher Disease
method(s): ◦ Sequencing, Capillary (Sanger) 
L.E.S. Mikrogen Genetic Diagnosis Center - Ankara, Turkey
TAT: 8-10 weeks
price: contact lab
NGS Lysosomal Storage Disease Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 8-10 weeks
price: contact lab
NGS Non-immune Hydrops Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 4 weeks
price: contact lab
Gaucher disease (GBA gene) Old Order Amish specific mutation analysis and sequencing
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
DDC Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 7-8 weeks
price: contact lab
Fetal akinesia / Arthrogryposis Multiplex Congenital (AMC)
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Parkinson Syndrome, Autosomal Dominant Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Parkinson all Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Ataxia and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Hereditary Spastic Paraplegias (HSP) and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Leukodystrophy / Leukencephalopathy and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Lysosomal Disorders NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Parkinson-Alzheimer-Dementia NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
GBA
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
GBA
method(s): ◦ Sequencing, Capillary (Sanger) 
Fulgent Diagnostics - Temple City, CA, USA
Metabolic disorders by CGC mutation panel
method(s):
CGC Genetics - Porto, Portugal
Parkinson disease (NGS panel of 33 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Gaucher disease (frequent mutations on GBA gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Single gene testing GBA
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Inherited Metabolic Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Gaucher Disease: GBA Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Gene Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Targeted Mutation Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Lysosomal Storage Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Ashkenazi Jewish Carrier Screen: Targeted Mutation Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 4-8 weeks
price: $1,300.00
Comprehensive Neurogenetics Panel (359 genes)
method(s): ◦ Sequencing, Next Gen 
Sherbrooke Genomic Medicine - Sherbrooke, Canada
Gaucher disease
method(s): ◦ Sequencing, Capillary (Sanger) 
GMDL Genica - Sofia, Bulgaria

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