PAX3 gene related symptoms and diseases

All the information presented here about the PAX3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PAX3 gene

Symptoms // Phenotype % Cases
Telecanthus Very Common - Between 80% and 100% cases
Hearing impairment Very Common - Between 80% and 100% cases
Wide nasal bridge Common - Between 50% and 80% cases
Congenital sensorineural hearing impairment Common - Between 50% and 80% cases
Blepharophimosis Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with PAX3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Synophrys
  • White forelock
  • Underdeveloped nasal alae
  • Aganglionic megacolon
  • Premature graying of hair
  • Sprengel anomaly
  • White hair
  • Heterochromia iridis

And 97 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PAX3 gene

Here you will find a list of rare diseases related to the PAX3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


WAARDENBURG SYNDROME TYPE 3


Alternate names

WAARDENBURG SYNDROME TYPE 3 Is also known as klein-waardenburg syndrome, waardenburg syndrome with limb anomalies, waardenburg syndrome type iii, ws3

Description

Waardenburg syndrome type 3 (WS3) is a very rare subtype of Waardenburg syndrome (WS; see this term) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.

Most common symptoms of WAARDENBURG SYNDROME TYPE 3

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Downslanted palpebral fissures
  • Atrial septal defect


More info about WAARDENBURG SYNDROME TYPE 3

SOURCES: ORPHANET

WAARDENBURG SYNDROME TYPE 1


Alternate names

WAARDENBURG SYNDROME TYPE 1 Is also known as waardenburg syndrome type i, ws1

Description

Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.

Most common symptoms of WAARDENBURG SYNDROME TYPE 1

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis


More info about WAARDENBURG SYNDROME TYPE 1

SOURCES: ORPHANET

WAARDENBURG SYNDROME, TYPE 1; WS1


Alternate names

WAARDENBURG SYNDROME, TYPE 1; WS1 Is also known as waardenburg syndrome with dystopia canthorum

Description

Waardenburg syndrome type 1 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and 'dystopia canthorum,' the lateral displacement of the ocular inner canthi (reviews by Read and Newton, 1997, Tamayo et al., 2008, and Pingault et al., 2010). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia irides and brilliant blue eyes; and congenital sensorineural hearing loss. Waardenburg syndrome has been classified into 4 main phenotypes. WS type 1 is distinguished by the presence of dystopia canthorum. WS type 2 (WS2; see {193510}) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3 ) has dystopia canthorum and upper limb abnormalities. WS type 4 (WS4; see {277580}), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Tamayo et al., 2008). Genetic Heterogeneity of All Types of Waardenburg SyndromeWaardenburg syndrome is genetically heterogeneous. WS1 and WS3 are both caused by mutation in the PAX3 gene. See WS2A (OMIM ) for a discussion of genetic heterogeneity of WS type 2, and WS4A (OMIM ) for a discussion of genetic heterogeneity of WS type 4.

Most common symptoms of WAARDENBURG SYNDROME, TYPE 1; WS1

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Mandibular prognathia


More info about WAARDENBURG SYNDROME, TYPE 1; WS1

SOURCES: OMIM

WAARDENBURG SYNDROME, TYPE 3; WS3


Alternate names

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome, waardenburg syndrome, type iii, waardenburg syndrome with upper limb anomalies

Description

Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

Most common symptoms of WAARDENBURG SYNDROME, TYPE 3; WS3

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


More info about WAARDENBURG SYNDROME, TYPE 3; WS3

SOURCES: OMIM

ALVEOLAR RHABDOMYOSARCOMA


Alternate names

ALVEOLAR RHABDOMYOSARCOMA Is also known as rmsa, rhabdomyosarcoma, alveolar

Description

A form of RHABDOMYOSARCOMA occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. It is extremely malignant, metastasizing widely at an early stage. Few cures have been achieved and the prognosis is poor. "Alveolar" refers to its microscopic appearance simulating the cells of the respiratory alveolus. (Holland et al., Cancer Medicine, 3d ed, p2188)

Most common symptoms of ALVEOLAR RHABDOMYOSARCOMA

  • Alveolar rhabdomyosarcoma


More info about ALVEOLAR RHABDOMYOSARCOMA

SOURCES: OMIM MESH ORPHANET

CRANIOFACIAL-DEAFNESS-HAND SYNDROME


Alternate names

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome, cdhs

Description

Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

Most common symptoms of CRANIOFACIAL-DEAFNESS-HAND SYNDROME

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

SOURCES: OMIM ORPHANET MESH


Potential gene panels for PAX3 gene

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

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

Waardenburg Syndrome Type 1/Type 3 Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg Syndrome Type I, 3 - PAX3 Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg Syndrome, Type 1 and 3 - PAX 3 Gene Panel

United States.

By Center for Genetics at Saint Francis Saint Francis Hospital

This panel specifically test the PAX3 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

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

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

PAX3. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PAX3 gene.

More info about this panel

PAX3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg Seq + Del/Dup Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Waardenburg Seq + Del/Dup Analysis that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3

More info about this panel

Waardenburg Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Waardenburg Del/Dup Panel that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3

More info about this panel

Waardenburg Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Waardenburg Seq Analysis that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3

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

Waardenburg syndrome types 1 and 3 (deletion/duplication analysis of PAX3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PAX3 gene.

More info about this panel

Syndromic deafness (NGS panel for 62 genes) Panel

Portugal.

By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR

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

Waardenburg syndrome types 1 and 3 (sequence analysis of PAX3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg syndrome (NGS panel of 7 genes) Panel

Portugal.

By CGC Genetics Waardenburg syndrome (NGS panel of 7 genes) that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3

More info about this panel

Waardenburg syndrome (NGS panel of 7 genes) Panel

Portugal.

By CGC Genetics Waardenburg syndrome (NGS panel of 7 genes) that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3

More info about this panel

Waardenburg Syndrome Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg Syndrome Types I and III via PAX3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Waardenburg Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3

More info about this panel

Hypopigmentation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypopigmentation Sequencing Panel with CNV Detection that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6

More info about this panel

Waardenburg syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Waardenburg syndrome NGS panel that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3

More info about this panel

Waardenburg syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Waardenburg syndrome Comprehensive panel that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3

More info about this panel

Waardenburg syndrome Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Waardenburg syndrome Deletion / Duplication panel that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Waardenburg Syndrome Type I Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg Syndrome Type III Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the PAX3 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

Waardenburg syndrome, type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PAX3 gene.

More info about this panel

Syndromic Hearing Loss Panel Panel

Germany.

By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR

More info about this panel

Genetic disorders with abnormal pigmentation Panel Panel

Germany.

By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST

More info about this panel

Waardenburg Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Waardenburg Syndrome that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3

More info about this panel

Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel Panel

United States.

By Molecular Vision Laboratory Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6

More info about this panel

Waardenburg Syndrome panel Panel

United States.

By Molecular Vision Laboratory Waardenburg Syndrome panel that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3 RET

More info about this panel

Craniofacial-deafness-hand syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg 1 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg 3 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAX3 gene.

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

qGenEx Craniofacial Anomalies Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3

More info about this panel

Craniofacial-deafness-hand syndrome Panel

Slovakia.

By MedGene

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg 3 Panel

Slovakia.

By MedGene

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg 1 Panel

Slovakia.

By MedGene

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg syndrome: PAX3 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg syndrome: PAX3 gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg, Syndrome Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Waardenburg, Syndrome that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3

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

Waardenburg Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Waardenburg Syndrome NGS Panel that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3

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

PAX3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PAX3 gene.

More info about this panel

Hemato-oncology chromosomal microarray Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2

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

Hirschsprung Disease Panel Panel

Finland.

By Blueprint Genetics Hirschsprung Disease Panel that also includes the following genes: RMRP BDNF SOX10 ZEB2 KIF1BP EDN3 EDNRB CELSR3 L1CAM MITF

More info about this panel

Syndromic Hearing Loss Panel Panel

Finland.

By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK

More info about this panel

Waardenburg Syndrome Panel Panel

Finland.

By Blueprint Genetics Waardenburg Syndrome Panel that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB KIT MITF PAX3

More info about this panel

Craniosynostosis Panel Panel

Finland.

By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23

More info about this panel

Waardenburg disease type 1 Panel

Spain.

By Bioarray

This panel specifically test the PAX3 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

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

WAARDENBURG SYNDROME TYPES 1 & 3 Panel

Spain.

By Laboratorio de Genetica Clinica SL WAARDENBURG SYNDROME TYPES 1 & 3 that also includes the following genes: MITF PAX3

More info about this panel

WAARDENBURG SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL WAARDENBURG SYNDROME NGS PANEL that also includes the following genes: SNAI2 SOX10 TYR EDN3 EDNRB MITF PAX3

More info about this panel

Waardenburg Syndrome , Sequencing PAX3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg Syndrome , Deletions-Duplications (MLPA) PAX3, MITF, SOX10 Genes Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg Syndrome , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Waardenburg Syndrome , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SNAI2 SOX10 EDN3 EDNRB MITF PAX3

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

Waardenburg Syndrome Type I: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the PAX3 gene.

More info about this panel

Waardenburg Syndrome Type I: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the PAX3 gene.

More info about this panel


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