GHR

OMIMHGNC

Synonym(s): GHBP

Locus: 5p13.1-p12

Protein: Growth hormone receptor

 

Disorders

Tests

Test Type
Molecular (34)
Cytogenetic (2)
Multi-Gene Panel (23)
Multi-Method Panel (16)
Test Method
Del/Dup (CNV) (14)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (13)
Uniparental Disomy (1)
Sequencing, Next Gen (19)
Prenatal/Carrier
Prenatal (16)
Carrier (15)
Lab Location
USA(14)
France(1)
Germany(6)
Spain(4)
Portugal(2)
Canada(2)
Austria(2)
Finland(3)
 
Pituitary Dwarfism II (GHR) Sequencing Test
method(s): ◦ Sequencing, Capillary (Sanger) 
All Children's Hospital, Johns Hopkins Medicine, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
GHR - Growth hormone resistance ; Laron Syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Hopital Trousseau - Assistance Publique des Hopitaux de Paris, U.F. de Genetique Moleculaire - Paris, France
TAT: 3-4 weeks
price: contact lab
GHR Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
TAT: 3-4 weeks
price: contact lab
GHR Del/Dup
method(s): ◦ Del/Dup (CNV) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, 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
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: 7-8 weeks
price: contact lab
NGS of 7 genes: GHR, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1.
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 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
Laron Syndrome, Sequencing GHR Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Laron syndrome (sequence analysis of GHR gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
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
TAT: 8-9 weeks
price: contact lab
Hypercholesterolemia, familial (NGS panel for 15 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: 4-6 weeks
price: contact lab
Short Stature, Autosomal Recessive NGS Panel
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 4-6 weeks
price: contact lab
GHR Gene Sequencing
method(s): ◦ Sequencing, Next Gen 
DDC Clinic Molecular Diagnostics Laboratory - Middlefield, OH, USA
TAT: 4-5 Weeks
price: contact lab
GHR
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Intellectual Disability 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
Laron Syndrome / Pituitary Dwarfism II (Growth Hormone Insensitivity) via the GHR Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 2-3 weeks
price: $840.00
Laron Syndrome / Pituitary Dwarfism II (Growth Hormone Insensitivity) via the GHR Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Laron dwarfism (Laron Syndrom)
method(s): ◦ Sequencing, Next Gen 
Praxis fuer Humangenetik Wien - Vienna, Austria
Laron dwarfism (Laron Syndrom)
method(s): ◦ Sequencing, Capillary (Sanger) 
Praxis fuer Humangenetik Wien - Vienna, Austria
TAT: ~2 weeks
price: contact lab
Laron syndrome
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Growth hormone insensitivity, partial
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
Growth Hormone Deficiency, Panel Massive Sequencing (NGS) 7 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 4-5 weeks
price: contact lab
Combined pituitary hormone deficiency panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Familial hypercholesterolemia panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany
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
Facial Dysostosis and Related Disorders 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
Facial Dysostosis and Related Disorders Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA