GJB2 gene related symptoms and diseases
All the information presented here about the GJB2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GJB2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Common - Between 50% and 80% cases |
| Sensorineural hearing impairment | Common - Between 50% and 80% cases |
| Hyperkeratosis | Uncommon - Between 30% and 50% cases |
| Palmoplantar keratoderma | Uncommon - Between 30% and 50% cases |
| Alopecia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GJB2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Ichthyosis
Rarely - Less than 30% cases
- Sparse and thin eyebrow
- Papule
- Hypotrichosis
- Scarring
- Palmoplantar hyperkeratosis
- Sparse eyelashes
- Pes cavus
And 103 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GJB2 gene
Here you will find a list of rare diseases related to the GJB2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
KNUCKLE PADS-LEUKONYCHIA-SENSORINEURAL DEAFNESS-PALMOPLANTAR HYPERKERATOSIS SYNDROME
Alternate names
KNUCKLE PADS-LEUKONYCHIA-SENSORINEURAL DEAFNESS-PALMOPLANTAR HYPERKERATOSIS SYNDROME Is also known as bart-pumphrey syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome
Most common symptoms of KNUCKLE PADS-LEUKONYCHIA-SENSORINEURAL DEAFNESS-PALMOPLANTAR HYPERKERATOSIS SYNDROME
- Hearing impairment
- Sensorineural hearing impairment
- Hyperkeratosis
- Palmoplantar keratoderma
- Bilateral sensorineural hearing impairment
More info about KNUCKLE PADS-LEUKONYCHIA-SENSORINEURAL DEAFNESS-PALMOPLANTAR HYPERKERATOSIS SYNDROME
KID SYNDROME
Alternate names
KID SYNDROME Is also known as ichthyosis hystrix rheydt type, keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome, senter syndrome, kid/hid syndrome, kid syndrome, autosomal dominant
Description
Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.
Most common symptoms of KID SYNDROME
- Intellectual disability
- Short stature
- Hearing impairment
- Neoplasm
- Sensorineural hearing impairment
More info about KID SYNDROME
DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
Description
An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.
Most common symptoms of DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
- Hearing impairment
- Sensorineural hearing impairment
- Peripheral neuropathy
- Retinopathy
- Vertigo
More info about DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A
Most common symptoms of DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A
- Hearing impairment
- Sensorineural hearing impairment
More info about DEAFNESS, AUTOSOMAL DOMINANT 3A; DFNA3A
KERATODERMA HEREDITARIUM MUTILANS
Alternate names
KERATODERMA HEREDITARIUM MUTILANS Is also known as khm, mutilating keratoderma, deafness, congenital, with keratopachydermia and constrictions of fingers and toes, vohwinkel syndrome, mutilating keratoderma of vohwinkel, mutilating keratoderma plus deafness, keratoderma hereditarium mutilans, ppk mutilans and de
Description
Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.
Most common symptoms of KERATODERMA HEREDITARIUM MUTILANS
- Hearing impairment
- Microcephaly
- Sensorineural hearing impairment
- Cleft palate
- Cognitive impairment
More info about KERATODERMA HEREDITARIUM MUTILANS
PALMOPLANTAR KERATODERMA-DEAFNESS SYNDROME
Alternate names
PALMOPLANTAR KERATODERMA-DEAFNESS SYNDROME Is also known as palmoplantar hyperkeratosis-hearing loss syndrome, palmoplantar keratoderma-hearing loss syndrome, palmoplantar hyperkeratosis-deafness syndrome, ppk-deafness syndrome
Description
Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.
Most common symptoms of PALMOPLANTAR KERATODERMA-DEAFNESS SYNDROME
- Hearing impairment
- Sensorineural hearing impairment
- Hyperkeratosis
- Palmoplantar keratoderma
- Ectodermal dysplasia
More info about PALMOPLANTAR KERATODERMA-DEAFNESS SYNDROME
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
Alternate names
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS Is also known as hid syndrome
Most common symptoms of ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
- Hearing impairment
- Sensorineural hearing impairment
- Alopecia
- Pes cavus
- Hyperkeratosis
More info about ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
POROKERATOTIC ECCRINE OSTIAL AND DERMAL DUCT NEVUS
Alternate names
POROKERATOTIC ECCRINE OSTIAL AND DERMAL DUCT NEVUS Is also known as porokeratotic eccrine nevus, comedo nevus of the palm
More info about POROKERATOTIC ECCRINE OSTIAL AND DERMAL DUCT NEVUS
SOURCES: ORPHANET
AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA
Alternate names
AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA Is also known as autosomal dominant non-syndromic sensorineural hearing loss type dfna, autosomal dominant isolated sensorineural deafness type dfna, autosomal dominant isolated sensorineural hearing loss type dfna, autosomal dominant isolated neurosensory deafness type dfna
More info about AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA
SOURCES: ORPHANET
AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB
Alternate names
AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB Is also known as autosomal recessive isolated sensorineural deafness type dfnb, autosomal recessive isolated neurosensory deafness type dfnb, autosomal recessive non-syndromic neurosensory deafness type dfnb
More info about AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB
SOURCES: ORPHANET
Search interest in GJB2
Potential gene panels for GJB2 gene
GJB2 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GJB2 gene.
More info about this panel United States.
GJB2 Deletion/Duplication Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GJB2 gene.
More info about this panel United States.
GJB2 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GJB2 gene.
More info about this panel United States.
GJB2 Sequence Analysis (Familial Mutation/Variant Analysis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GJB2 gene.
More info about this panel United States.
GJB2 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the GJB2 gene.
More info about this panel United States.
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 United States.
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 United States.
Connexin 26 DNA Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the GJB2 gene.
More info about this panel United States.
Connexin Related Deafness Evaluation Panel
United States.
By Athena Diagnostics Inc Connexin Related Deafness Evaluation that also includes the following genes: GJB2 GJB6
More info about this panel United States.
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel United States.
Connexin 26 Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the GJB2 gene.
More info about this panel United States.
Connexin 26 Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the GJB2 gene.
More info about this panel United States.
NGS Hearing Loss Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A
More info about this panel United States.
Hearing Loss (Connexin-26, Connexin-30, Mitochondrial A1555G) Panel
United States.
By Center for Human Genetics, Inc Hearing Loss (Connexin-26, Connexin-30, Mitochondrial A1555G) that also includes the following genes: GJB2 GJB6 MT-RNR1
More info about this panel United States.
GJB2-Related Nonsyndromic Hearing Loss and Deafness Panel
United States.
By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital GJB2-Related Nonsyndromic Hearing Loss and Deafness that also includes the following genes: GJB2 GJB6
More info about this panel United States.
Test for GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the GJB2 gene.
More info about this panel Netherlands.
Test for GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the GJB2 gene.
More info about this panel Netherlands.
Hearing Loss Panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Hearing Loss Panel that also includes the following genes: GJB2 GJB6 SLC26A4
More info about this panel Netherlands.
Connexin 26 Panel
United States.
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the GJB2 gene.
More info about this panel United States.
Connexin Hearing Loss Panel Panel
United States.
By Center for Genetics at Saint Francis Saint Francis Hospital Connexin Hearing Loss Panel that also includes the following genes: GJB2 GJB6
More info about this panel United States.
Hereditary Hearing Loss Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the GJB2 gene.
More info about this panel Canada.
OtoSCOPE Panel
United States.
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
More info about this panel United States.
GJB2/GJB6 Panel
United States.
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics GJB2/GJB6 that also includes the following genes: GJB2 GJB6
More info about this panel United States.
Connexin 26 and Connexin 30 (Non-Syndromic Hereditary Hearing Loss-DFNB1) Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Connexin 26 and Connexin 30 (Non-Syndromic Hereditary Hearing Loss-DFNB1) that also includes the following genes: GJB2 GJB6
More info about this panel United States.
Hearing Loss Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
More info about this panel United States.
GJB2 Sequencing, Family-targeted (Single Exon Sequencing - Known Mutation) Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the GJB2 gene.
More info about this panel Canada.
GJB2 Sequencing, Full Gene Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the GJB2 gene.
More info about this panel Canada.
GJB2 Early Childhood Nonsyndromic Hearing Loss Panel
United States.
By Genetics Laboratory Shodair Children's Hospital
This panel specifically test the GJB2 gene.
More info about this panel United States.
GJB2 (Connexin 26) 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 GJB2 gene.
More info about this panel United States.
Hearing Loss Panel- Tier 1 Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Hearing Loss Panel- Tier 1 that also includes the following genes: GJB2 GJB6 MT-RNR1 MT-TS1
More info about this panel United States.
OtoSeq Hearing Loss Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center OtoSeq Hearing Loss Panel by next-generation sequencing (NGS) that also includes the following genes: SIX1 SIX5 TMPRSS3 USH1C USH2A CLRN1 CDH23 PCDH15 USH1G WHRN
More info about this panel United States.
OtoSeq Hearing Loss Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center OtoSeq Hearing Loss Deletion/Duplication Panel that also includes the following genes: SIX1 SIX5 TMPRSS3 USH1C USH2A CLRN1 CDH23 PCDH15 USH1G TMC1
More info about this panel United States.
GJB2 (Connexin 26) Deletion/duplication analysis 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 GJB2 gene.
More info about this panel United States.
Connexin 26 Panel
United States.
By United States Air Force Molecular Diagnostic Laboratory United States Air Force Connexin 26 that also includes the following genes: GJB2 GJB6
More info about this panel United States.
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness Panel
United States.
By Molecular Genetics Columbia University
This panel specifically test the GJB2 gene.
More info about this panel United States.
GJB2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the GJB2 gene.
More info about this panel Germany.
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the GJB2 gene.
More info about this panel Argentina.
GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada"
This panel specifically test the GJB2 gene.
More info about this panel Argentina.
Connexin Test (GJB2 Sequencing and DFNB1 (GJB6) Deletions) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Connexin Test (GJB2 Sequencing and DFNB1 (GJB6) Deletions) that also includes the following genes: GJB2 GJB6
More info about this panel United States.
OtoGenome Test for Hearing Loss (110 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A
More info about this panel United States.
DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the GJB2 gene.
More info about this panel Switzerland.
Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication that also includes the following genes: SMPX TECTA TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN CDH23 ACTG1
More info about this panel United States.
Connexin 26, Full Gene Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the GJB2 gene.
More info about this panel United States.
Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations that also includes the following genes: GJB2 GJB6 MT-RNR1 MT-TS1
More info about this panel United States.
GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness Panel
United States.
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the GJB2 gene.
More info about this panel United States.
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness Panel
United States.
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the GJB2 gene.
More info about this panel United States.
Ichthyosis, Hystrix-like, with Deafness Panel
United States.
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the GJB2 gene.
More info about this panel United States.
Keratitis-Ichthyosis-Deafness, Autosomal Dominant Panel
United States.
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the GJB2 gene.
More info about this panel United States.
Vohwinkel Syndrome Panel
United States.
By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children
This panel specifically test the GJB2 gene.
More info about this panel United States.
GJB2 - Related DFNB1 Nonsyndromic Hearing Loss and Deafness Panel
Brazil.
By GENE Núcleo de Genética Médica de Minas Gerais
This panel specifically test the GJB2 gene.
More info about this panel Brazil.
GJB2 Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the GJB2 gene.
More info about this panel Canada.
OTOF,GJB3,GJB2,GJB6, NextGeneDx.Complete sequencing and detection of the mutations m.3243A>G, m.1555A>G, m.1494C>T, m.1095T>C, m.1095T>C, m.961delInsC, m.961T>C, m.7445A>G and m.7445A>C Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica OTOF,GJB3,GJB2,GJB6, NextGeneDx.Complete sequencing and detection of the mutations m.3243A>G, m.1555A>G, m.1494C>T, m.1095T>C, m.1095T>C, m.961delInsC, m.961T>C, m.7445A>G and m.7445A>C that also includes the following genes: GJB2 GJB6 OTOF
More info about this panel Spain.
GJB2 (Conexina 26). Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GJB2 gene.
More info about this panel Spain.
GJB2 (Conexina 26). Detection of the mutation c.35delG by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GJB2 gene.
More info about this panel Spain.
GJB2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GJB2 gene.
More info about this panel Spain.
GJB2. Detection of the mutation c.35delG by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the GJB2 gene.
More info about this panel Spain.
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 United States.
Audiome (hearing loss panel) Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C
More info about this panel United States.
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness Panel
Portugal.
By CGC Genetics
This panel specifically test the GJB2 gene.
More info about this panel Portugal.
GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness Panel
Portugal.
By CGC Genetics
This panel specifically test the GJB2 gene.
More info about this panel Portugal.
Congenital deafness (deletion/duplication analysis of GJB2, GJB6, GJB3, POU3F4 and WFS1 genes) Panel
Portugal.
By CGC Genetics Congenital deafness (deletion/duplication analysis of GJB2, GJB6, GJB3, POU3F4 and WFS1 genes) that also includes the following genes: WFS1 GJB2 GJB6 POU3F4
More info about this panel Portugal.
Non syndromic deafness AD (NGS panel for 33 genes) Panel
Portugal.
By CGC Genetics Non syndromic deafness AD (NGS panel for 33 genes) that also includes the following genes: SIX1 TECTA TJP2 WFS1 ACTG1 DIAPH3 TMC1 TMC2 CCDC50 SLC17A8
More info about this panel Portugal.
Non syndromic deafness AR and XL (NGS panel for 56 genes) Panel
Portugal.
By CGC Genetics Non syndromic deafness AR and XL (NGS panel for 56 genes) that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2
More info about this panel Portugal.
Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel
Portugal.
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panel Portugal.
Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel
Portugal.
By CGC Genetics Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) that also includes the following genes: SIX1 SLC12A1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WFS1 ESPN
More info about this panel Portugal.
Congenital deafness (sequence analysis of GJB2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GJB2 gene.
More info about this panel Portugal.
congenital hearing defect, connexin 26 mutation analysis Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the GJB2 gene.
More info about this panel Poland.
Deafness, Nonsyndromic hearing loss and deafness Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the GJB2 gene.
More info about this panel India.
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness Panel
Cyprus.
By Molecular Genetics, Function and Therapy Cyprus Institute of Neurology and Genetics
This panel specifically test the GJB2 gene.
More info about this panel Cyprus.
GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness Panel
Cyprus.
By Molecular Genetics, Function and Therapy Cyprus Institute of Neurology and Genetics
This panel specifically test the GJB2 gene.
More info about this panel Cyprus.
Deafness, Autosomal Dominant 3A (DFNA3A) and Deafness, Autosomal Recessive 1A (DFNB1A) via GJB2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GJB2 gene.
More info about this panel United States.
Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection that also includes the following genes: SMPX TECTA TJP2 TMPRSS3 OTOA TMC1 TRIOBP CCDC50 GIPC3 SLC17A8
More info about this panel United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
GJB2-related DFNB 1 nonsyndromic hearing loss and deafness Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the GJB2 gene.
More info about this panel Germany.
Sensorineural Hearing Loss Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Sensorineural Hearing Loss that also includes the following genes: GJB2 GJB6
More info about this panel Argentina.
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the GJB2 gene.
More info about this panel Germany.
GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the GJB2 gene.
More info about this panel Germany.
DFNA 3 Nonsyndromic Hearing Loss and Deafness Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the GJB2 gene.
More info about this panel Germany.
Non-syndromic Hearing Loss Panel
India.
By GeneTech ATS GeneTech Private Limited Non-syndromic Hearing Loss that also includes the following genes: GJB2 GJB6
More info about this panel India.
Keratoderma, palmoplantar, with deafness Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GJB2 gene.
More info about this panel Germany.
Knuckle pads and leukonychia sensorineural deafness Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GJB2 gene.
More info about this panel Germany.
CentoICU platinum plus Panel
Germany.
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
New Born testing (CentoICU) Panel
Germany.
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panel Germany.
Deafness 1A Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GJB2 gene.
More info about this panel Germany.
Deafness 1B Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GJB2 gene.
More info about this panel Germany.
Deafness, non-syndromic sensorineural AR panel Panel
Germany.
By Centogene AG - the Rare Disease Company Deafness, non-syndromic sensorineural AR panel that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C ESPN CDH23 PCDH15 STRC WHRN
More info about this panel Germany.
Deafness with keratopachydermia and constrictions of fingers and toes Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GJB2 gene.
More info about this panel Germany.
Keratitis ichthyosis deafness syndrome AD Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GJB2 gene.
More info about this panel Germany.
DFNA 3A Nonsyndromic Hearing Loss and Deafness Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum DFNA 3A Nonsyndromic Hearing Loss and Deafness that also includes the following genes: GJB2 GJB6
More info about this panel Germany.
Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Hearing Loss, nonsyndromic, autosomal recessive and X-linked Panel that also includes the following genes: SMPX TECTA TMPRSS3 USH1C TSPEAR ESPN CLIC5 CDH23 CABP2 PCDH15
More info about this panel Germany.
Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel Panel
Germany.
By CeGaT GmbH Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel that also includes the following genes: SMPX TECTA TJP2 WFS1 ACTG1 DIAPH3 TMC1 TMC2 CCDC50 SLC17A8
More info about this panel Germany.
Ichthyoses and related disorders of cornification Panel Panel
Germany.
By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL
More info about this panel Germany.
Single gene testing GJB2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the GJB2 gene.
More info about this panel Germany.
Non-Syndromic Hearing Loss Panel
India.
By Molecular Diagnostics Division Centre for Cellular and Molecular Biology
This panel specifically test the GJB2 gene.
More info about this panel India.
Test for GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness Panel
United Kingdom.
By All Wales Genetics Laboratory Institute of Medical Genetics
This panel specifically test the GJB2 gene.
More info about this panel United Kingdom.
GJB2-Related DFNB1 Nonsyndromic Hearing Loss and Deafness (GJB2/GJB6) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner GJB2-Related DFNB1 Nonsyndromic Hearing Loss and Deafness (GJB2/GJB6) that also includes the following genes: GJB2 GJB6
More info about this panel Germany.
GJB2/GJB6-Related DFNA3 Nonsyndromic Hearing Loss and Deafness (GJB2/GJB6) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner GJB2/GJB6-Related DFNA3 Nonsyndromic Hearing Loss and Deafness (GJB2/GJB6) that also includes the following genes: GJB2 GJB6
More info about this panel Germany.
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 Estonia.
Sensorineural Hearing Loss Panel
Estonia.
By Asper Biogene Asper Biogene LLC Sensorineural Hearing Loss that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN
More info about this panel Estonia.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Common Hearing Loss Panel Panel
United States.
By Molecular Vision Laboratory Common Hearing Loss Panel that also includes the following genes: GJB2 GJB6 SLC26A4
More info about this panel United States.
GJB2 single gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the GJB2 gene.
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Congenital deafness (GJB2, GJB6) Panel
Belgium.
By Center for Human Genetics Cliniques Universitaires Saint Luc Congenital deafness (GJB2, GJB6) that also includes the following genes: GJB2 GJB6
More info about this panel Belgium.
GJB2 gene sequence analysis Panel
United States.
By Molecular and Cytogenetic Diagnostic Laboratories Genetics Center
This panel specifically test the GJB2 gene.
More info about this panel United States.
Deafness, neurosensory, autosomal recessive Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the GJB2 gene.
More info about this panel Austria.
GJB2 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the GJB2 gene.
More info about this panel Austria.
Hearing impairment (inherited causes) Panel
Singapore.
By Molecular Diagnosis Centre National University Hospital Hearing impairment (inherited causes) that also includes the following genes: GJB2 GJB6
More info about this panel Singapore.
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 United States.
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 Spain.
Deafness, neurosensory, autosomal recessive Panel
Slovakia.
By MedGene
This panel specifically test the GJB2 gene.
More info about this panel Slovakia.
Deafness, Hereditary: GJB2 (Connexin 26) gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the GJB2 gene.
More info about this panel Spain.
Deafness, Hereditary: GJB2 (Connexin 26) gene y mitochondrial DNA mutations analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Deafness, Hereditary: GJB2 (Connexin 26) gene y mitochondrial DNA mutations analysis that also includes the following genes: GJB2 MT-RNR1
More info about this panel Spain.
Deafness, Hereditary: GJB2 and OTOF genes and mitochondrial DNA mutations analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Deafness, Hereditary: GJB2 and OTOF genes and mitochondrial DNA mutations analysis that also includes the following genes: GJB2 MT-RNR1 OTOF
More info about this panel Spain.
Deafness, Hereditary: GJB2, GJB6 and OTOF genes mutations analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Deafness, Hereditary: GJB2, GJB6 and OTOF genes mutations analysis that also includes the following genes: GJB2 GJB6 OTOF
More info about this panel Spain.
DEAFNESS A.D. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.D. that also includes the following genes: TECTA TJP2 WFS1 ACTG1 TMC1 CCDC50 SLC17A8 COCH COL11A2 MYH14
More info about this panel Spain.
DEAFNESS A.D. and A.R. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.D. and A.R. that also includes the following genes: TECTA TJP2 TMPRSS3 USH1C WFS1 CDH23 ACTG1 PCDH15 WHRN BSND
More info about this panel Spain.
DEAFNESS A.R. (39 genes) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.R. (39 genes) that also includes the following genes: TECTA TMPRSS3 USH1C CDH23 PCDH15 WHRN BSND TMC1 TRIOBP GIPC3
More info about this panel Spain.
Hearing Loss: GJB2 Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the GJB2 gene.
More info about this panel United States.
Hearing Loss: GJB2 and GJB6 Sequencing, GJB6 Common Deletion, and Targeted Mitochondrial Analysis Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: GJB2 and GJB6 Sequencing, GJB6 Common Deletion, and Targeted Mitochondrial Analysis Panel that also includes the following genes: GJB2 GJB6
More info about this panel United States.
Hearing Loss: GJB2 & GJB6 Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: GJB2 & GJB6 Gene Sequencing Panel that also includes the following genes: GJB2 GJB6
More info about this panel United States.
Hearing Loss: GJB2 & GJB6 Gene Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: GJB2 & GJB6 Gene Deletion/Duplication Panel that also includes the following genes: GJB2 GJB6
More info about this panel United States.
Hearing Loss: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panel United States.
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
More info about this panel United States.
Hearing Loss: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C
More info about this panel United States.
Hearing Loss NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
More info about this panel United States.
GJB2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GJB2 gene.
More info about this panel United States.
Ichthyosis Panel Panel
Finland.
By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1
More info about this panel Finland.
Comprehensive Hearing Loss and Deafness Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel Finland.
Non-Syndromic Hearing Loss Panel Panel
Finland.
By Blueprint Genetics Non-Syndromic Hearing Loss Panel that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WBP2 WFS1 ESPN
More info about this panel Finland.
Ectodermal Dysplasia Panel Panel
Finland.
By Blueprint Genetics Ectodermal Dysplasia Panel that also includes the following genes: RMRP BCS1L IFT122 WNT10A EDARADD TP63 MPLKIP CDH3 PORCN EVC2
More info about this panel Finland.
Palmoplantar Keratoderma Panel Panel
Finland.
By Blueprint Genetics Palmoplantar Keratoderma Panel that also includes the following genes: WNT10A SERPINB7 MBTPS2 TRPV3 SLURP1 KRT6C CTSC AAGAB DSG1 DSP
More info about this panel Finland.
Autosomal recessive nonsyndromic sensorineural deafness Panel
Spain.
By Bioarray
This panel specifically test the GJB2 gene.
More info about this panel Spain.
Connexin 26 Panel
United States.
By Tulane Hayward Genetics Center Molecular Diagnostics Lab Tulane University
This panel specifically test the GJB2 gene.
More info about this panel United States.
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
More info about this panel United States.
Mutation analysis of Connexin 26 gene and testing of common deletions in Connexin 30 gene Panel
India.
By Diagnostics Division Centre for DNA Fingerprinting and Diagnostics Mutation analysis of Connexin 26 gene and testing of common deletions in Connexin 30 gene that also includes the following genes: GJB2 GJB6
More info about this panel India.
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
United States.
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panel United States.
PALMOPLANTAR KERATODERMA WITH DEAFNESS Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GJB2 gene.
More info about this panel Spain.
VOHWINKEL SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GJB2 gene.
More info about this panel Spain.
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) Panel
Spain.
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) that also includes the following genes: TMPRSS3 USH1C CDH23 PCDH15 STRC TMC1 OTOGL PJVK GJB2 GJB6
More info about this panel Spain.
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) Panel
Spain.
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) that also includes the following genes: SIX1 TECTA WFS1 ACTG1 COCH COL11A2 GJB2 GJB6 MYH9
More info about this panel Spain.
KERATITIS, ICHTHYOSIS AND DEAFNESS SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the GJB2 gene.
More info about this panel Spain.
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) NGS PANEL that also includes the following genes: SIX1 SMPX TECTA TJP2 WFS1 ACTG1 P2RX2 DIAPH3 OSBPL2 CD164
More info about this panel Spain.
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL that also includes the following genes: SLC12A1 SMPX TECTA TMPRSS3 USH1C TSPEAR WBP2 CLIC5 CDH23 CABP2
More info about this panel Spain.
Autosomal Recessive Hereditary Deafness Type 1A , Sequencing GJB2 (Connexin 26) Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GJB2 gene.
More info about this panel Spain.
Autosomal Dominant Hereditary Deafness Type 3A , Deletion GJB2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GJB2 gene.
More info about this panel Spain.
Autosomal Recessive Hereditary Deafness Type 1A , Deletion GJB2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the GJB2 gene.
More info about this panel Spain.
Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: SLC27A4 SNAP29 ST14 STS TGM1 TGM5 ALOXE3 ABCA12 SPINK5 MPLKIP
More info about this panel Spain.
Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SIX1 TECTA TJP2 WFS1 ACTG1 TMC1 HOMER2 CCDC50 SLC17A8 COCH
More info about this panel Spain.
Autosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Recessive Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 39 Genes that also includes the following genes: TECTA TMPRSS3 USH1C CDH23 PCDH15 WHRN BSND TMC1 TRIOBP GIPC3
More info about this panel Spain.
Hearing Loss Panel Panel
United States.
By Molecular Diagnostics Children's Hospital of Wisconsin
This panel specifically test the GJB2 gene.
More info about this panel United States.
GJB2-Related DFNB1 Nonsyndromic Hearing Loss and Deafness Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the GJB2 gene.
More info about this panel Germany.
GJB2 gene sequencing for deafness Panel
India.
By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics
This panel specifically test the GJB2 gene.
More info about this panel India.
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
More info about this panel United States.
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
More info about this panel Canada.
Bart-Pumphrey Syndrome: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GJB2 gene.
More info about this panel Canada.
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 Canada.
Digenic GJB2/GJB3 deafness: Full gene panel sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GJB2 gene.
More info about this panel Canada.
Autosomal dominant deafness Type 3A: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GJB2 gene.
More info about this panel Canada.
Autosomal recessive deafness Type 1A: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GJB2 gene.
More info about this panel Canada.
Digenic GJB2/GJB6 deafness: Full gene panel sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Digenic GJB2/GJB6 deafness: Full gene panel sequencing (Rapid testing) that also includes the following genes: GJB2 GJB6
More info about this panel Canada.
Keratitis ichthyosis deafness syndrome: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GJB2 gene.
More info about this panel Canada.
Vohwinkel syndrome: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GJB2 gene.
More info about this panel Canada.
Palmoplantar keratoderma with deafness: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GJB2 gene.
More info about this panel Canada.
Hystrix-like ichthyosis with deafness: Full gene sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the GJB2 gene.
More info about this panel Canada.
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 Canada.
Non-syndromic congenital deafness Panel
Hungary.
By Genomic Laboratory Semmelweis University
This panel specifically test the GJB2 gene.
More info about this panel Hungary.
Connexin 26 common mutation Panel
India.
By Genetic Services Unit National Institute of Biomedical Genomics
This panel specifically test the GJB2 gene.
More info about this panel India.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NSMF CD164 CARD9 PDGFRL EMX2 CACNA1S FCGR2C