WFS1

OMIMHGNC

Synonym(s): DIDMOAD, WFS, DFNA6, DFNA14, DFNA38

Locus: 4p16.1

Protein: Wolframin

 

Disorders

Tests

Test Type
Molecular (80)
Cytogenetic (1)
Panel (55)
Test Method
Del/Dup (CNV) (18)
Mutation Scanning of Entire Coding Region (5)
Sequencing, Capillary (Sanger) (14)
Genotyping (Microarray, Beads, etc.) (3)
Sequencing, Next Gen (55)
Prenatal/Carrier
Prenatal (13)
Carrier (18)
Lab Location
USA(41)
Spain(9)
Germany(15)
Estonia(1)
Portugal(10)
Poland(2)
Turkey(1)
Canada(2)
 
TAT: 4-6 weeks
price: contact lab
Hearing Loss/Deafness Multi-Gene Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 6-8 weeks
price: contact lab
OtoGenome™ Test for Hearing Loss and Related Syndromes (87 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 2-3 weeks
price: contact lab
WFS1-Related Disorders Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 3-4 weeks
price: contact lab
WFS1 Del/Dup
method(s): ◦ Del/Dup (CNV) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
TAT: 3-4 weeks
price: contact lab
WFS1 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
TAT: 12-13 weeks
price: contact lab
Hearing Loss: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 3-4 weeks
price: $870.00
WFS1-Related Disorders via the WFS1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,310.00
Wolfram Syndrome Sanger Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-5 weeks
price: contact lab
Detection of large deletions and/or duplications i n the WFS1 gene by MLPA
method(s): ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
Sanger sequencing of the WFS1 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 5 genes: MYH14, PRPS1, TIMM8A, WFS1, Z CD2/CISD2
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 27 genes: ACTG1, CCDC50, CEACAM16, COC H, COL11A2, CRYM, DFNA5, DIAPH1, EYA4, GJB2, GJB3, GJB6, GRHL2, KCNQ4, MIR96, MYH14, MYH9, MYO1A, MY O6, MYO7A, POU4F3, SLC17A8, SMAC/DIABLO, TECTA, TJ P2, TMC1, WFS1
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 11-13 weeks
price: contact lab
NGS of 79 genes: ACTG1, BSND, CABP2, CCDC50, LC17A8, SLC26A4, SLC26A5, SMAC/DIABLO, SMPX, TECTA TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, USH1G, USH2A, WFS1 and WHRN. CDH23, CEACAM16, CIB2, CISD2, CLDN14, CLRN1, COCH, COL11A2, CRYM,
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 11-12 weeks
price: contact lab
NuclearMitome
method(s): ◦ Sequencing, Next Gen 
Transgenomic - New Haven - New Haven, CT, USA
TAT: 7-8 weeks
price: contact lab
Ataxia Exome Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 8-9 weeks
price: contact lab
Neonatal Diabetes/MODY Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4 weeks
price: contact lab
Wolfram syndrome sequencing Panel
method(s): ◦ Sequencing, Next Gen 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
TAT: 4 weeks
price: contact lab
Wolfram syndrome Del/Dup Panel
method(s): ◦ Del/Dup (CNV) 
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
Hearing Loss/Deafness Multi-Gene Panels
method(s): ◦ Sequencing, Next Gen 
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: 9-11 weeks
price: contact lab
Comprehensive Mitochondrial Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 9-11 weeks
price: contact lab
Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
TAT: 9-11 weeks
price: contact lab
Combined Mito Genome Plus Mito 139 Nuclear Gene Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
GeneDx - Gaithersburg, MD, USA
Wolfram Syndrome Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Denver Genetics Laboratory at Children's Hospital Colorado - Aurora, CO, USA
TAT: 12-16 weeks
price: $1,500.00
OtoSCOPE
method(s): ◦ Sequencing, Next Gen 
University of Iowa Hospital and Clinics, Molecular Otolaryngology and Renal Research Laboratories - Iowa City, IA, USA
TAT: 4-6 weeks
price: $1,590.00
Optic Atrophy NextGen Sequencing (NGS) Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: contact lab
Expanded Hearing Loss Panel, Deletion/Duplication (53 Genes)
method(s): ◦ Del/Dup (CNV) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Expanded Hearing Loss Panel, Sequencing (56 Genes)
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Expanded Hearing Loss Panel, Sequencing (56 Genes) and Deletion/Duplication (53 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Mitochondrial Disorders (121 Nuclear Genes) Sequencing
method(s): ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Mitochondrial Disorders (108 Nuclear Genes) Sequencing and Deletion/Duplication
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 10-12 weeks
price: contact lab
Mitochondrial Disorders Panel (mtDNA Sequencing and Deletion/Duplication, 121 Nuclear Genes Sequencing, 119 Nuclear Genes Deletion/Duplication)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 3-4 weeks
price: contact lab
Mitochondrial Disorders (mtDNA and 119 Nuclear Genes) Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 26 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Barcelona, Spain
Wolfram Syndrome , Sequencing WFS1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
Wolfram Syndrome , Promoter Sequencing WFS1 Gene
method(s): ◦ Mutation Scanning of Entire Coding Region 
Reference Laboratory Genetics - Barcelona, Spain
Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Mitochondrial Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Wolfram syndrome (sequence analysis of WFS1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Syndromic congenital deafness by CGC mutation panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Congenital deafness (syndromic and nonsyndromic) by CGC Mutation Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Gedi-R, Genetic Eye Disease Panel for Retinal Genes
method(s): ◦ Sequencing, Next Gen 
Ocular Genomics Institute Genetic Diagnostic Laboratory at Massachusetts Eye and Ear Infirmary - Boston, MA, USA
Gedi-O, Genetic Eye Disease Panel for Optic Neuropathy and Early onset Glaucoma
method(s): ◦ Sequencing, Next Gen 
Ocular Genomics Institute Genetic Diagnostic Laboratory at Massachusetts Eye and Ear Infirmary - Boston, MA, USA
Deafness, Autosomal Dominant
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Wolfram Syndrome Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
TAT: 7-8 weeks
price: contact lab
Mitochondrial Encephalopathy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Mitochondrial Deafness
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Epilepsy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Mitochondrial Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Cataract
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Hereditary Optic Atrophy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 7-8 weeks
price: contact lab
Epilepsy and Mitochondrial Encephalopathy
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
TAT: 3-5 weeks
price: contact lab
WFS1-Related Disorders Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Hearing Loss, Nonsyndromic, Autosomal Dominant and X-Linked Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Syndromic Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Ataxia and Differential Diagnoses Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
nucSEEK Focus
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 7-10 days
price: contact lab
NewbornDx HL
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 4-6 Weeks
price: contact lab
Diabetes-Obesity NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Eye Disorders NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Hearing Loss NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
MODY Neonatal Diabetes NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Nuclear-Mito NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Retinitis Pigmentosa NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Wolfram Syndrome Comprehensive NGS Panel
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
WFS1
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Hearing Loss NGS Panel
method(s): ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Retinitis Pigmentosa NGS Panel
method(s): ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Wolfram Syndrome Comprehensive NGS Panel
method(s): ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
WFS1
method(s): ◦ Sequencing, Capillary (Sanger) 
Fulgent Diagnostics - Temple City, CA, USA
Syndromic deafness (NGS panel of 62 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
ARRAY CGC for molecular diagnosis of nonsyndromic congenital hearing loss
method(s):
CGC Genetics - Porto, Portugal
Cataracts (NGS panel of 41 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Non syndromic deafness AD, AR and XL (NGS panel of 79 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Syndromic and non syndromic deafness (NGS panel of 127 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Congenital deafness (deletion/duplication analysis of GJB2, GJB6, GJB3, POU3F4 and WFS1 genes)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
Non syndromic deafness AD (NGS panel of 33 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Single gene testing WFS1
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
Endocrine Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Endocrine Disorders: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada

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