CLCN5

OMIMHGNC

Synonym(s): DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5, NPHL2, NPHL1

Locus: Xp11.23

Protein: Chloride channel protein 5

 

Disorders

Tests

Test Type
Molecular (43)
Multi-Gene Panel (29)
Multi-Method Panel (15)
Test Method
Microarray (CGH-Oligo, SNP, BAC) (1)
Del/Dup (CNV) (16)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (18)
Sequencing, Next Gen (23)
Prenatal/Carrier
Prenatal (19)
Carrier (26)
Lab Location
Germany(10)
Spain(4)
USA(16)
Portugal(2)
Poland(3)
Canada(4)
Finland(4)
 
TAT: 3-4 weeks
price: contact lab
CLCN5 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
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
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 9-10 weeks
price: contact lab
Sanger sequencing of CLCN5 gene
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Capillary (Sanger) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 3-5 weeks
price: contact lab
nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome
method(s): ◦ Sequencing, Next Gen 
Courtagen Life Sciences, Courtagen Diagnostics Laboratory - Woburn, MA, USA
TAT: 3-4 weeks
price: contact lab
CLCN5 Del/Dup (Females)
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 4-5 weeks
price: contact lab
CLCN5 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
Dent Disease
method(s): ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
Dent Disease Type 1, Sequencing CLCN5 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 3-4 weeks
price: contact lab
X Chromosome Ultra-High Density Microarray
method(s): ◦ Microarray (CGH-Oligo, SNP, BAC) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
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
Kidney Diseases Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Mitochondrial Disorders Panel
method(s): ◦ Sequencing, Next Gen 
Genomic Laboratory of the DNA Research Center LTD (Centrum Badań DNA sp z o.o.) - Poznań, Poland
Dent disease type I (sequence analysis of CLCN5 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Dent Disease: sequencing of CLCN5 and OCRL genes
method(s): ◦ Sequencing, Capillary (Sanger) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 2-4 weeks
price: $1,370.00
Abnormal Mineralization Disorders NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $1,150.00
Abnormal Mineralization Disorders NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $2,370.00
Abnormal Mineralization Disorders NGS Panel Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 4-6 weeks
price: contact lab
Hypophosphatemic Rickets Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
Rickets (NGS panel for 10 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
CEN4GEN Institute for Genomics and Molecular Diagnostics - Edmonton, Canada
Osteogenesis Imperfecta and Decreased 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
TAT: 4-6 weeks
price: contact lab
Skeletal dysplasia with abnormal mineralization Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 2-4 weeks
price: contact lab
Single gene testing CLCN5
method(s): ◦ Sequencing, Capillary (Sanger) 
CeGaT GmbH - Tübingen, Germany
TAT: 11-12 weeks
price: $2,000.00
KidneySeq - A Comprehensive Inherited Kidney Disease Panel
method(s): ◦ Sequencing, Next Gen 
Iowa Institute of Human Genetcs (IIHG) - Iowa City, IA, USA
TAT: 4-5 Weeks
price: contact lab
CLCN5
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 4-6 Weeks
price: contact lab
Nuclear-Mito 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: 3-4 weeks
price: contact lab
Skeletal Dysplasia with Abnormal Mineralization Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Osteogenesis Imperfecta Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Hypophosphatemic Rickets Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - 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, Finland
TAT: 2-3 weeks
price: $840.00
Dent Disease via the CLCN5 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,440.00
Dent Disease Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,940.00
Nephrolithiasis and Nephrocalcinosis Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Abnormal Mineralization, Panel Massive Sequencing (NGS) 28 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: ~2 weeks
price: contact lab
Dent disease
method(s): ◦ Sequencing, Capillary (Sanger) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Proteinuria, low Molecular|Multi-Method Panel weight, with hypercalciuric nephrocalcinosis
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Hypophosphatemic rickets
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: ~2 weeks
price: contact lab
Nephrolithiasis type 1
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4-5 weeks
price: contact lab
Abnormal mineralization panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany