SHOX

OMIMHGNC

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

Locus: Xp22.33 and Yp11.32

Protein: Short stature homeobox protein

 

Disorders

Filter By:

Test Type
Molecular
Cytogenetic
Panel
Test Method
Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.)
Sequencing, Capillary (Sanger)
FISH-Metaphase
Mutation Scanning of Entire Coding Region
Sequencing, Next Gen
Prenatal/Carrier
Prenatal
Carrier
Lab Location
Germany
Korea, Republic of
Spain
Turkey
USA

Tests

Test
TAT: 6-7 weeks
price: contact lab
Detection of large deletions and/or duplications in SHOX gene by MLPA
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
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
Leri-Weill Dyschondrosteosis , Deletions-Duplications (MLPA) SHOX Gene
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Reference Laboratory Genetics - Barcelona, Spain
Leri-Weill Dyschondrosteosis , Sequencing SHOX Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Barcelona, 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: 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: 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: 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: 3-4 weeks
price: $520.00
Short stature Homebox (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
TAT: 3-5 weeks
price: $990.00
Short stature Homebox (SHOX)-related Haploinsufficiency Disorder via the SHOX Gene
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
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: 4-6 weeks
price: contact lab
SHOX Gene Sequencing and Del/Dup
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
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 disorder test
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
SHOX-Related Haploinsufficiency Disorders
method(s): ◦ Deletion / Duplication / Copy Number (Array, MLPA, Q-PCR, etc.) ◦ Sequencing, Capillary (Sanger) 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
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
Skeletal Dysplasia: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA