PAX3

OMIMHGNC

Synonym(s): HUP2, WS1

Locus: 2q36.1

Protein: Paired box protein Pax-3

 

Disorders

Tests

Test Type
Molecular (50)
Multi-Gene Panel (39)
Multi-Method Panel (20)
Test Method
Del/Dup (CNV) (26)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (12)
Sequencing, Next Gen (36)
Prenatal/Carrier
Prenatal (23)
Carrier (26)
Lab Location
Spain(4)
Portugal(4)
Estonia(1)
USA(20)
Germany(11)
Turkey(1)
Poland(2)
Greece(1)
Austria(1)
Finland(5)
 
TAT: 6-8 weeks
price: contact lab
OtoGenome™ Test for Hearing Loss and Related Syndromes (87 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
Waardenburg Syndrome Type 1/3 Test
method(s): ◦ Sequencing, Capillary (Sanger) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
Waardenburg Syndrome Type 1/3 Test
method(s): ◦ Del/Dup (CNV) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Test
method(s): ◦ Del/Dup (CNV) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
TAT: 2-3 weeks
price: contact lab
Waardenburg Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 7-8 weeks
price: contact lab
NGS of 3 genes: COLEC11, MASP1, PAX3.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Waardenburg Syndrome Types 1 and 3 , Sequencing PAX3 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Waardenburg Syndrome , Deletions-Duplications (MLPA) PAX3, MITF, SOX10 Genes
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Skin Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Waardenburg syndrome types 1 and 3 (sequence analysis of PAX3 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 6-8 weeks
price: contact lab
Waardenburg Syndrome Panel (6 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine - Cambridge, MA, USA
TAT: 4-5 weeks
price: contact lab
Hereditary Spastic Paraplegias (HSP) Multi-Gene NGS Panel
method(s): ◦ Sequencing, Next Gen 
InterGenetics - Diagnostic Genetic Center - Athens, Greece
TAT: 4-6 weeks
price: contact lab
Genetic Disorders with Abnormal Pigmentation Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Syndromic Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Waardenburg Syndrome, Panel Massive Sequencing (NGS) 6 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 7-10 days
price: contact lab
NewbornDx
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 7-10 days
price: contact lab
NewbornDx HL
method(s): ◦ Sequencing, Next Gen 
Parabase Genomics - Boston, MA, USA
TAT: 4-6 weeks
price: contact lab
Somatic Tumor Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Syndromic deafness (NGS panel of 62 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Syndromic and non syndromic deafness (NGS panel of 127 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Waardenburg syndrome types 1 and 3 (deletion/duplication analysis of PAX3 gene)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
TAT: contact lab
price: $1,177.00
Waardenburg Syndrome
method(s): ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Test
method(s): ◦ Sequencing, Capillary (Sanger) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
TAT: 4-6 Weeks
price: contact lab
Hearing Loss NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-5 Weeks
price: contact lab
PAX3
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Waardenburg Syndrome NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: $690.00
Waardenburg Syndrome Types I and III via the PAX3 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Waardenburg syndrome Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $680.00
Waardenburg Syndrome Types I and III via the PAX3 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,290.00
Waardenburg syndrome Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Waardenburg syndrome (Waardenburg Syndrom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: 4 weeks
price: $1,245.00
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel
method(s): ◦ Sequencing, Next Gen 
Otogenetics Corporation - Atlanta, GA, USA
TAT: ~2 weeks
price: contact lab
Waardenburg syndrome type 1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Albinism panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-3 weeks
price: contact lab
CentoICU Platinum
method(s): ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Waardenburg syndrome panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 3-4 weeks
price: $2,130.00
Waardenburg syndrome NGS panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $990.00
Waardenburg syndrome NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: $1,290.00
Waardenburg syndrome NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Hearing Loss and Deafness Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal / Malformation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Craniosynostosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Hirschsprung Disease Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Waardenburg Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Hearing Loss and Deafness Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal / Malformation Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Craniosynostosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Hirschsprung Disease Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Waardenburg Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA