GBA

OMIMHGNC

Synonym(s): GBA1, GLUC

Locus: 1q22

Protein: Glucosylceramidase

 

Disorders

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Test Type
Biochemical
Molecular
Panel
Test Method
Mutation Scanning of Select Exons
Mutation Scanning of Entire Coding Region
Quantitative Biochemical Analysis
Sequencing, Capillary (Sanger)
Genotyping (Microarray, Beads, etc.)
Sequencing, Next Gen
Research
Research Tests
Prenatal/Carrier
Prenatal
Carrier
Lab Location
Canada
Czech Republic
Estonia
Germany
Korea, Republic of
Poland
Spain
USA

Tests

Test
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
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: 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
Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 3-4 weeks
price: contact lab
Ashkenazic Genetic Disease Screen (with CF)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor College of Medicine, Medical 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 College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Beta-Galactosidase-F
method(s): ◦ Quantitative Biochemical Analysis 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
Beta-Galactosidase-W
method(s): ◦ Quantitative Biochemical Analysis 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, 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: 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
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: 3-5 weeks
price: contact lab
devSEEK Clinical Management Panel, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 8-10 weeks
price: contact lab
Fetal Akinesia / Arthrogryposis (AMC) - Multi-gene Panel
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Gaucher diease test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 4-6 weeks
price: contact lab
Gaucher Disease
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
TAT: 7-10 days
price: contact lab
Gaucher Disease
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
Gaucher Disease (GBA)
method(s): ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
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
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: 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
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: contact lab
Gaucher Disease-Ashkenazic
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, 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: 3-4 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
GBA Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
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
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center (Centrum Badań DNA sp z o.o.) - Poznań, Poland
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: 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: 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
Neurodegenerative Diseases
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center (Centrum Badań DNA sp z o.o.) - Poznań, Poland
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: 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: 4-6 weeks
price: contact lab
Parkinson-Alzheimer-Dementia NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
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