HEXA

OMIMHGNC

Locus: 15q24.1

Protein: Hexosaminidase A

 

Disorders

Filter By:

Test Type
Biochemical
Molecular
Cytogenetic
Panel
Test Method
Sequencing, Next Gen
Genotyping (Microarray, Beads, etc.)
Sequencing, Capillary (Sanger)
Mutation Scanning of Select Exons
Quantitative Biochemical Analysis
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)
Prenatal/Carrier
Prenatal
Carrier
Lab Location
Canada
Czech Republic
Estonia
Korea, Republic of
Spain
Turkey
USA

Tests

Test
TAT: 4-6 weeks
price: contact lab
Ashkenazi Jewish Carrier Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen ◦ Genotyping (Microarray, Beads, etc.) 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
Ashkenazi Jewish Carrier Screening
method(s): ◦ Mutation Scanning of Select Exons 
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada
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
Ashkenazi Jewish Mutation Analysis Panel Without Cystic Fibrosis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 4-6 weeks
price: contact lab
Ashkenazi Jewish Screening Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
TAT: 12-16 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
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: 16-20 weeks
price: contact lab
Comprehensive Epilepsy Evaluation NGS Panel
method(s): ◦ Sequencing, Next Gen 
Transgenomic - New Haven - New Haven, CT, USA
TAT: 6-7 weeks
price: contact lab
Detection of Mutations c.1277insTATC, c.1421+1G>C and c.805G>A (G269S) in the HEXA 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: 4-6 weeks
price: contact lab
Epilepsy NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-5 weeks
price: contact lab
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
GM2 gangliosidosis type I (HEXA) Test
method(s): ◦ Sequencing, Capillary (Sanger) 
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
TAT: 4-5 weeks
price: contact lab
HEXA Del/Dup
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-5 weeks
price: contact lab
HEXA Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 2 weeks
price: contact lab
Hexosaminidase A and B Enzyme Analysis
method(s): ◦ Quantitative Biochemical Analysis 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
Hexosaminidase A Deficiency, HEXA Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
Hexosaminidase A Deficiency, HEXA KFM Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Hexosaminidase A Deficiency, HEXA PND Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, 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: 2 weeks
price: contact lab
Tay-Sachs Carrier Testing (Serum)
method(s): ◦ Quantitative Biochemical Analysis 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 7-10 days
price: contact lab
Tay-Sachs Carrier Testing (WBC)
method(s): ◦ Quantitative Biochemical Analysis 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Tay-Sachs Diagnosis and Carrier Detection Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 4-6 weeks
price: contact lab
Tay-Sachs Disease (see Ashkenazi Jewish Screening Panel)
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
TAT: 3-4 weeks
price: contact lab
Tay-Sachs Disease Ashkenazic Mutation Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
TAT: 1 week
price: contact lab
Tay-Sachs Disease Genetic Test (HEXA Gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 3-4 weeks
price: $840.00
Tay-Sachs Disease via the HEXA Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $990.00
Tay-Sachs Disease via the HEXA Gene
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-5 weeks
price: contact lab
Tay-Sachs Disease: HEXA Gene Deletion/Duplication
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 4-5 weeks
price: contact lab
Tay-Sachs Disease: HEXA Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Tay-Sachs Disease HEXA Gene, Full Gene Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
Tay-Sachs Disease HEXA Gene, Known Mutation
method(s): ◦ Sequencing, Capillary (Sanger) 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
Tay-Sachs disese test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of