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.

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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

SOURCES: ORPHANET MESH OMIM

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

SOURCES: OMIM ORPHANET

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

SOURCES: MESH OMIM

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

SOURCES: MESH OMIM

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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: ORPHANET OMIM MESH

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

SOURCES: OMIM MESH

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


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

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

GJB2 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the GJB2 gene.

More info about this panel

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

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

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

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

Connexin 26 DNA Sequencing Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the GJB2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

Hereditary Hearing Loss Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the GJB2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

GJB2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the GJB2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

GJB2 Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the GJB2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Congenital deafness (sequence analysis of GJB2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GJB2 gene.

More info about this panel

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

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

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

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

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

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

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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

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

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

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

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

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

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

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

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

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

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

Deafness 1A Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GJB2 gene.

More info about this panel

Deafness 1B Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GJB2 gene.

More info about this panel

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

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

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

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

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

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

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

Single gene testing GJB2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the GJB2 gene.

More info about this panel

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

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

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

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

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

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

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

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

GJB2 single gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the GJB2 gene.

More info about this panel

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

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

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

Deafness, neurosensory, autosomal recessive Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the GJB2 gene.

More info about this panel

GJB2 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the GJB2 gene.

More info about this panel

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

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

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

Deafness, neurosensory, autosomal recessive Panel

Slovakia.

By MedGene

This panel specifically test the GJB2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

GJB2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GJB2 gene.

More info about this panel

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

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

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

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

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

Autosomal recessive nonsyndromic sensorineural deafness Panel

Spain.

By Bioarray

This panel specifically test the GJB2 gene.

More info about this panel

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

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

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

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

PALMOPLANTAR KERATODERMA WITH DEAFNESS Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GJB2 gene.

More info about this panel

VOHWINKEL SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the GJB2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Non-syndromic congenital deafness Panel

Hungary.

By Genomic Laboratory Semmelweis University

This panel specifically test the GJB2 gene.

More info about this panel

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


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