SHOX

OMIMHGNC

Synonym(s): PHOG, GCFX, SS, SHOXY

Locus: Xp22.33 and Yp11.32

Protein: Short stature homeobox protein

 

Disorders

Tests

Test Type
Molecular (56)
Cytogenetic (5)
Multi-Gene Panel (27)
Multi-Method Panel (27)
Test Method
Del/Dup (CNV) (30)
FISH-Metaphase (2)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (25)
Genotyping (Microarray, Beads, etc.) (2)
Uniparental Disomy (2)
Sequencing, Next Gen (18)
Prenatal/Carrier
Prenatal (31)
Carrier (31)
Lab Location
USA(25)
Germany(6)
Canada(8)
Spain(5)
Portugal(4)
Turkey(2)
Netherlands(1)
Korea, Republic of(1)
Austria(1)
Finland(5)
 
SHOX-Related Haploinsufficiency Disorders Test
method(s): ◦ Sequencing, Capillary (Sanger) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
SHOX-Related Haploinsufficiency Disorders Test
method(s): ◦ Del/Dup (CNV) 
bio.logis Center for Human Genetics - Frankfurt am Main, Germany
SHOX-related disorder test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
TAT: 1-2 weeks
price: contact lab
SHOX Deletion
method(s): ◦ FISH-Metaphase 
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
TAT: 3-4 weeks
price: contact lab
SHOX Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
SHOX-Related Haploinsufficiency Disorders
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 12-13 weeks
price: contact lab
Proportionate Short Stature/Small for Gestational Age: Russell-Silver Panel, UPD14 Analysis, Sequencing, and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, 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: 4-5 weeks
price: contact lab
SHOX-related Haploinsufficiency Disorders: SHOX Gene Sequencing
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Proportionate Short Stature/Small for Gestational Age: CytoScan SNP Array, Russell-Silver Panel, UPD14 Analysis, Sequencing and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 12-13 weeks
price: contact lab
Proportionate Short Stature/Small for Gestational Age: CytoScan SNP Array, Sequencing, and Deletion/Duplication Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 6-7 weeks
price: contact lab
Detection of large deletions and/or duplications in SHOX gene by MLPA
method(s): ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
Sanger sequencing of the SHOX gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 4 genes: GPC6, ORC1, ROR2, SHOX.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 4-6 weeks
price: contact lab
SHOX Gene Sequencing and Del/Dup
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Leri-Weill Dyschondrosteosis , Deletions-Duplications (MLPA) SHOX Gene
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Leri-Weill Dyschondrosteosis , Sequencing SHOX Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Leri-Weill dyschondrosteosis (deletion/duplication analysis of SHOX gene)
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Short stature, X-linked (sequence analysis of SHOX gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Short stature (deletion/duplication analysis on SHOX gene)
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
SHOX-Related Short Stature
method(s): ◦ Sequencing, Capillary (Sanger) 
Burc Molecular Genetics Laboratory - Istanbul, Turkey
TAT: 4-6 weeks
price: contact lab
SHOX Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 4 weeks
price: contact lab
SHOX Deletion/duplication analysis
method(s): ◦ Del/Dup (CNV) 
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
TAT: 7-10 days
price: contact lab
SHOX
method(s): ◦ FISH-Metaphase 
Cincinnati Children's Hospital Medical Center, Cytogenetics Laboratory - Cincinnati, OH, USA
Leri-Weill dyschondrosteosis (sequence analysis of SHOX gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Disproportionate Short Stature: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Disproportionate Short Stature: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Proportionate Short Stature/Small for Gestational Age: SNP Array, Russell-Silver Panel, UPD14 Analysis, and Sequencing Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Proportionate Short Stature/Small for Gestational Age: Russell-Silver Panel, UPD14 Analysis, and Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen ◦ Uniparental Disomy 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Proportionate Short Stature/Small for Gestational Age: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
SHOX-related Haploinsufficiency Disorders: SHOX Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Skeletal Dysplasia: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Skeletal Dysplasia: Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 1-2 weeks
price: $500.00
Langer Mesomelic Dysplasia (LMD)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Langer Mesomelic Dysplasia (LMD)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,080.00
Langer Mesomelic Dysplasia (LMD)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: $500.00
Leri-Weill Dyschondrosteosis (LWD)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Leri-Weill Dyschondrosteosis (LWD)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,080.00
Leri-Weill Dyschondrosteosis (LWD)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: $500.00
Short Stature, Idiopathic, X-linked (ISS)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Short Stature, Idiopathic, X-linked (ISS)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-4 weeks
price: $690.00
Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $520.00
Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Proportional dwarfism (Proportionaler Minderwuchs)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
Short stature syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 10 weeks
price: contact lab
SHOX - Gene Sequencing and Del/Dup analysis
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
VU University Medical Center, Genome Diagnostics Amsterdam - Amsterdam, Netherlands
TAT: 3-4 weeks
price: contact lab
Comprehensive Short Stature Syndrome 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
Micromelic Dysplasia Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Skeletal Dysplasias and Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Skeletal Dysplasias Core Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Short Stature 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
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
Micromelic Dysplasia 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 Dysplasias and Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Skeletal Dysplasias Core Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA