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.
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).
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).
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
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
Search interest in PAX3
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 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.
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 United States.
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 United States.
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 United States.
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.
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.
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.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 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.
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 Portugal.
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 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.
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 Portugal.
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 Portugal.
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 Portugal.
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 India.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 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.
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 Germany.
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 Germany.
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 Germany.
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 Estonia.
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 United States.
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 United States.
Craniofacial-deafness-hand syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PAX3 gene.
More info about this panel Austria.
Waardenburg 1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PAX3 gene.
More info about this panel Austria.
Waardenburg 3 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the PAX3 gene.
More info about this panel Austria.
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 Spain.
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 Spain.
Craniofacial-deafness-hand syndrome Panel
Slovakia.
By MedGene
This panel specifically test the PAX3 gene.
More info about this panel Slovakia.
Waardenburg 3 Panel
Slovakia.
By MedGene
This panel specifically test the PAX3 gene.
More info about this panel Slovakia.
Waardenburg 1 Panel
Slovakia.
By MedGene
This panel specifically test the PAX3 gene.
More info about this panel Slovakia.
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 Spain.
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 Spain.
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 Spain.
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.
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 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.
PAX3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PAX3 gene.
More info about this panel United States.
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 United States.
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.
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 Finland.
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 Finland.
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 Finland.
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 Finland.
Waardenburg disease type 1 Panel
Spain.
By Bioarray
This panel specifically test the PAX3 gene.
More info about this panel Spain.
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 United States.
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 United States.
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 United States.
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.
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 Spain.
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 Spain.
Waardenburg Syndrome , Sequencing PAX3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the PAX3 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 United States.
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 Canada.
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 Canada.
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