CTSK

OMIMHGNC

Synonym(s): PKND, CTSO2, CTSO, PYCD

Locus: 1q21.3

Protein: Cathepsin K

 

Disorders

Tests

Test Type
Molecular (67)
Multi-Gene Panel (52)
Multi-Method Panel (39)
Test Method
Del/Dup (CNV) (35)
Mutation Scanning of Entire Coding Region (1)
Sequencing, Capillary (Sanger) (23)
Genotyping (Microarray, Beads, etc.) (1)
Repeat Expansion / Contraction (4)
Sequencing, Next Gen (46)
Prenatal/Carrier
Prenatal (36)
Carrier (47)
Lab Location
USA(41)
Spain(3)
Portugal(1)
United Kingdom(1)
Poland(1)
Germany(3)
Canada(11)
Finland(6)
 
TAT: 4-5 weeks
price: contact lab
CTSK Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 3-4 weeks
price: contact lab
CTSK Familial Mutation/Variant Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
CTSK Prenatal Sequence Analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
CTSK Deletion/Duplication Analysis
method(s): ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 4-5 weeks
price: contact lab
CTSK Sequence and Deletion/Duplication Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2-3 weeks
price: contact lab
Osteopetrosis NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
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: 12-13 weeks
price: contact lab
Skeletal Dysplasia With Increased Bone Density: Sequencing Panel
method(s):
EGL Genetic Diagnostics, Molecular Genetics Laboratory - Tucker, GA, USA
TAT: 6-8 weeks
price: contact lab
Osteopetrosis NGS Panel
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 2-4 weeks
price: contact lab
Osteopetrosis NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Pycnodysostosis (PKND)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 7-10 days
price: contact lab
Pycnodysostosis
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
Pycnodysostosis, Sequencing CTSK Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Inherited Disease Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Pycnodysostosis: CTSK gene sequence analysis
method(s): ◦ Sequencing, Capillary (Sanger) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 8-10 weeks
price: contact lab
NGS Lysosomal Storage Disease Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 2-4 weeks
price: contact lab
Osteopetrosis and Dense Bone Dysplasia NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Osteopetrosis and Dense Bone Dysplasia NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 3-5 weeks
price: contact lab
Severe Recessive Childhood Diseases
method(s): ◦ Sequencing, Next Gen 
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Pycnodysostosis (sequence analysis of CTSK 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
Pan-Ethnic Carrier Screen: Gene Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Targeted Mutation Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Skeletal Dysplasia With Increased Bone Density: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Skeletal Dysplasia With Increased Bone Density: 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
Lysosomal Storage Disorders: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 2-3 weeks
price: contact lab
Pycnodysostosis (PKND)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 1-2 weeks
price: contact lab
Pycnodysostosis (PKND)
method(s): ◦ Sequencing, Capillary (Sanger) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-6 weeks
price: contact lab
Skeletal dysplasia with increased bone density Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Pan-Ethnic Carrier Screen: Mutation and SMA Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
TAT: 2-4 weeks
price: contact lab
Lysosomal Disease (NextGen Sequencing Panel and Copy Number Analysis; 72 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
TAT: 4-5 Weeks
price: contact lab
CTSK
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Lysosomal Disorders NGS Panel
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
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: 2-4 weeks
price: contact lab
Osteopetrosis and Dense bone dysplasia NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: contact lab
Osteopetrosis NGS panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 274 (Pan-Ethnic Extended Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: 2-3 weeks
price: contact lab
Horizon 137 (Pan-Ethnic Intermediate Panel)
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Natera, Inc. - San Carlos, CA, USA
TAT: ~2 weeks
price: contact lab
Pycnodysostosis
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 2-4 weeks
price: contact lab
Family Prep Screen
method(s): ◦ Del/Dup (CNV) ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
Counsyl, Inc., Counsyl - South San Francisco, CA, USA
TAT: 2-4 weeks
price: contact lab
Pan-European Carrier Screening
method(s): ◦ Sequencing, Next Gen 
MNG Laboratories (Medical Neurogenetics, LLC.) - Atlanta, GA, USA
Peroxisomal and Lysosomal Diseases, Panel Massive Sequencing (NGS) 80 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Lysosomal Storage Disease Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
NCL (Batten Disease) Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Oligosaccharidoses Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 1-3 weeks
price: $1,500.00
Invitae Comprehensive Lysosomal Storage Disorders Panel
method(s): ◦ Sequencing, Next Gen ◦ Del/Dup (CNV) 
Invitae - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Comprehensive Metabolism 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
Lysosomal Disorders and Mucopolysaccharidosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, Helsinki - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Osteopetrosis and Dense Bone 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 Metabolism 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
Lysosomal Disorders and Mucopolysaccharidosis Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics, San Francisco - San Francisco, CA, USA
TAT: 3-4 weeks
price: contact lab
Osteopetrosis and Dense Bone 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
TAT: 2 weeks
price: contact lab
GeneAware Complete Panel Version 2 (Female)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: 2 weeks
price: contact lab
GeneAware Complete Panel Version 2 (Male)
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Baylor Miraca Genetics Laboratories - Houston, TX, USA
TAT: ~2 weeks
price: $590.00
FamilyReady Carrier Screen (204 Genes)
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Repeat Expansion / Contraction ◦ Sequencing, Next Gen 
EvolveGene - St. Petersburg, FL, 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