TRPS1

OMIMHGNC

Synonym(s): LGCR, GC79

Locus: 8q23.3

Protein: Zinc finger transcription factor Trps1

 

Disorders

Tests

Test Type
Molecular (39)
Cytogenetic (2)
Multi-Gene Panel (19)
Multi-Method Panel (18)
Test Method
Del/Dup (CNV) (24)
FISH-Metaphase (2)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (15)
Sequencing, Next Gen (17)
Prenatal/Carrier
Prenatal (21)
Carrier (21)
Lab Location
USA(17)
Spain(3)
Portugal(2)
Netherlands(1)
Germany(6)
Korea, Republic of(1)
Poland(1)
Canada(6)
Austria(1)
Finland(3)
 
Trichorhinophalangeal syndrome type 1 test
method(s): ◦ Sequencing, Capillary (Sanger) 
Medical Genetics Center, Asan Medical Center - Seoul, Korea, Republic of
FISH PANEL-Langer Giedion
method(s): ◦ FISH-Metaphase 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
FISH-Trichorhinophalangeal Syndrome
method(s): ◦ FISH-Metaphase 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2-3 weeks
price: contact lab
Trichorhinophalangeal syndrome, type I / III (TRPS I / III)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Trichorhinophalangeal syndrome, type I / III (TRPS I / III)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
Langer-Giedion Syndrome
method(s): ◦ Del/Dup (CNV) 
MVZ Dortmund Dr. Eberhard and Partner - Dortmund, Germany
TAT: 12-13 weeks
price: contact lab
Skeletal Dysplasia: Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 12-13 weeks
price: contact lab
Disproportionate Short Stature: Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 7-8 weeks
price: contact lab
Sanger sequencing of the TRPS1 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 1-2 weeks
price: contact lab
Trichorhinophalangeal syndrome, type I / III (TRPS I / III)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
Trichorhinophalangeal Syndrome Types I and III , Sequencing TRPS1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
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
Trichorhinophalangeal syndrome type I (sequence analysis of TRPS1 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
TAT: 4-8 weeks
price: $635.00
Analysis TRPS1 gene (TRP Syndrome 1)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Trichorhinophalangeal Syndrome , Deletions-Duplications (MLPA) TRPS1, EXT1 Genes
method(s): ◦ Del/Dup (CNV) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair)
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Trichorhinophalangeal syndrome types 1 and 3 (deletion/duplication analysis of TRPS1 gene)
method(s): ◦ Del/Dup (CNV) 
CGC Genetics - Porto, Portugal
TAT: 2-4 weeks
price: contact lab
Single gene testing TRPS1
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
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
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: 4-6 weeks
price: contact lab
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 Weeks
price: contact lab
Skeletal Dysplasias 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
TRPS1
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 3-4 weeks
price: $690.00
Tricho-rhino-phalangeal Syndrome Types I and III via the TRPS1 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $860.00
Tricho-rhino-phalangeal Syndrome Types I and III via the TRPS1 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Trichorhinophalangeal syndrome (Trichorhinophalangeal Syndrom)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
Trichorhinophalangeal syndrome type 1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Langer-Giedion syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 1-3 weeks
price: $1,500.00
Invitae Trichorhinophalangeal Syndrome Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - 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, 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
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: 3-5 weeks
price: $2,190.00
Skeletal Disorders and Joint Problems Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: contact lab
Skeletal Disorders and Joint Problems Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 4-8 weeks
price: contact lab
Trichorhinophalangeal Syndrome Type 1
method(s): ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 2-4 weeks
price: contact lab
Trichorhinophalangeal Syndrome Type 1
method(s): ◦ Del/Dup (CNV) 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada