SOX9

OMIMHGNC

Synonym(s): SRA1, CMD1, CMPD1

Locus: 17q24.3

Protein: Transcription factor SOX-9

 

Disorders

Tests

Test Type
Molecular (38)
Panel (18)
Test Method
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) (11)
Mutation Scanning of Select Exons (1)
Mutation Scanning of Entire Coding Region (3)
Sequencing, Capillary (Sanger) (16)
Genotyping (Microarray, Beads, etc.) (3)
Sequencing, Next Gen (11)
Prenatal/Carrier
Prenatal (18)
Carrier (9)
Lab Location
Estonia(1)
Poland(3)
Turkey(2)
Spain(5)
USA(22)
Portugal(3)
Korea, Republic of(1)
Netherlands(1)
 
Campomelic Dysplasia Test (the SOX9 gene - entire)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 3-5 weeks
price: contact lab
Skeletal Dysplasia Multi-Gene Panel
method(s): ◦ Sequencing, Next Gen 
Insight Medical Genetics, LLC - Chicago, IL, USA
Campomelic dysplasia test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
Campomelic Dysplasia
method(s): ◦ Sequencing, Capillary (Sanger) 
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
Campomelic Dysplasia Test (the SOX9 gene - exon: 1 )
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
Campomelic Dysplasia Test (the SOX9 gene - exons: 2,3)
method(s): ◦ Sequencing, Capillary (Sanger) 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
TAT: 2 weeks
price: contact lab
SOX9 Mutations
method(s): ◦ Sequencing, Capillary (Sanger) 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 2-3 weeks
price: contact lab
Campomelic dysplasia (CMPD)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Campomelic dysplasia (CMPD)
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $2,500.00
Skeletal Dysplasia core NGS panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $3,450.00
Skeletal Dysplasia core and extended NGS panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 12-13 weeks
price: contact lab
Skeletal Dysplasia: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Disproportionate Short Stature: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Limb Malformation: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 2 weeks
price: $902.00
Campomelic Dysplasia
method(s): ◦ Sequencing, Capillary (Sanger) 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
TAT: 6-7 weeks
price: contact lab
Sanger sequencing of SOX9 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 5-6 weeks
price: contact lab
Cell culture of amniotic fluid and screening of the 50 most frequent mutations in the FGFR3, COL2A1 , SLC26A2, CRTAP, LEPRE1 and SOX9 genes
method(s): ◦ Mutation Scanning of Select Exons ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 7 genes: ALPL, GHR, GHSR, HSPG2, LIFR, RMRP, SOX9.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 5 genes: CHSY1, GNAS, HOXA13, MGP, SOX9.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 2-3 weeks
price: contact lab
Prenatal SOX9 Gene Sequencing and Del/Dup
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 3-4 weeks
price: contact lab
SOX9 Del/Dup
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
GeneDx - Gaithersburg, MD, USA
TAT: 6-8 weeks
price: contact lab
SOX9 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-6 weeks
price: contact lab
Skeletal Dysplasia
method(s): ◦ Genotyping (Microarray, Beads, etc.) ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
TAT: 2-3 weeks
price: contact lab
Skeletal Dysplasia core and extended Del/Dup panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: $3,790.00
Skeletal Dysplasia core and extended NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Skeletal Dysplasia core Del/Dup panel
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: $1,990.00
Skeletal Dysplasia core NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Campomelic dysplasia (CMPD)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
Campomelic Dysplasia , Sequencing SOX9 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, Spain
TAT: 2-3 weeks
price: $1,500.00
Campomelic dysplasia
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Next Gen 
Invitae - San Francisco, CA, USA
Campomelic dysplasia (sequence analysis of SOX9 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Campomelic dysplasia (deletion/duplication analysis of SOX9 gene)
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Skeletal dysplasia by CGC Mutation Panel
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
TAT: 4-6 Weeks
price: contact lab
Skeletal Dysplasias
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2 Weeks
price: contact lab
SOX9
method(s): ◦ Sequencing, Next Gen 
Fulgent Diagnostics - Temple City, CA, USA
Campomelic Dysplasia Test
method(s): ◦ Sequencing, Capillary (Sanger) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
TAT: 4-8 weeks
price: contact lab
NGS Skeletal Dysplasia Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 3-4 weeks
price: $4,290.00
Skeletal Dysplasia Core NGS Panel Comprehensive Test
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA

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