COL4A5

OMIMHGNC

Synonym(s): ASLN, ATS

Locus: Xq22.3

Protein: COL4A5 protein

 

Disorders

Tests

Test Type
Molecular (61)
Multi-Gene Panel (39)
Multi-Method Panel (17)
Test Method
Del/Dup (CNV) (26)
Mutation Scanning of Entire Coding Region (2)
Sequencing, Capillary (Sanger) (13)
Genotyping (Microarray, Beads, etc.) (2)
Repeat Expansion / Contraction (1)
Sequencing, Next Gen (37)
Prenatal/Carrier
Prenatal (22)
Carrier (31)
Lab Location
USA(28)
Germany(10)
Spain(8)
Portugal(6)
Estonia(1)
United Kingdom(1)
Poland(3)
Finland(4)
 
TAT: 3-4 weeks
price: contact lab
COL4A5 Del/Dup
method(s): ◦ Del/Dup (CNV) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
TAT: 3-4 weeks
price: contact lab
COL4A5 Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
TAT: 2-3 weeks
price: $990.00
Alport syndrome, X-linked (ATS)
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-3 weeks
price: $680.00
Alport syndrome, X-linked (ATS)
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 12-13 weeks
price: contact lab
Hearing Loss: Sequencing Panel
method(s):
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
TAT: 6-7 weeks
price: contact lab
Detection of large deletions and/or duplicati ons in the COL4A5 gene by MLPA
method(s): ◦ Del/Dup (CNV) 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 7-8 weeks
price: contact lab
NGS of 4 genes: COL4A3, COL4A4, COL4A5, COL4A6.
method(s): ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
TAT: 3-4 weeks
price: contact lab
COL4A5 Gene Sequencing and Del/Dup
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Steroid Resistant Nephrotic Syndrome NGS Panel
method(s): ◦ Sequencing, Next Gen 
Bristol Genetics Laboratory - Bristol, United Kingdom
TAT: 3-4 weeks
price: contact lab
COL4A5 Del/Dup
method(s): ◦ Del/Dup (CNV) 
GeneDx - Gaithersburg, MD, USA
TAT: 7-8 weeks
price: contact lab
COL4A5 Gene Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
GeneDx - Gaithersburg, MD, USA
TAT: 2-3 weeks
price: $1,570.00
Alport syndrome, X-linked (ATS) Comprehensive Test
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
Alport Syndrome, Panel Massive Sequencing (NGS) COL4A5 , COL4A3, COL4A4 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
X-Linked Alport Syndrome, Sequencing COL4A5 Gene
method(s): ◦ Sequencing, Capillary (Sanger) 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
Alport Syndrome
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
Cologne University, Institute of Human Genetics - Cologne, Germany
TAT: 7-10 days
price: contact lab
Alport Syndrome: X-linked
method(s): ◦ Genotyping (Microarray, Beads, etc.) 
Recombine - Livingston, NJ, USA
TAT: ~2 weeks
price: contact lab
Alport Syndrome, X-linked (COL4A5) Deletion/Duplication
method(s): ◦ Del/Dup (CNV) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 4-5 weeks
price: contact lab
Alport Syndrome, X-linked (COL4A5) Sequencing and Deletion/Duplication
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
TAT: 3-4 weeks
price: contact lab
Alport Syndrome, X-linked (COL4A5) Sequencing
method(s): ◦ Sequencing, Capillary (Sanger) 
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Alport Syndrome , Deletions-Duplications (MLPA) COL4A5 Gene
method(s): ◦ Del/Dup (CNV) 
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
Hearing Loss 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
Alport syndrome (NGS panel for COL4A3, COL4A4 and COL4A5 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Alport syndrome (deletion/duplication analysis of COL4A5 gene)
method(s): ◦ Del/Dup (CNV) ◦ Genotyping (Microarray, Beads, etc.) 
CGC Genetics - Porto, Portugal
Alport Syndrome
method(s): ◦ Sequencing, Next Gen 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Alport syndrome: COL4A5 gene deletions-duplications analysis (MLPA)
method(s): ◦ Del/Dup (CNV) 
GENETAQ, Molecular Genetics Centre - Malaga, Spain
TAT: 4-6 weeks
price: contact lab
Syndromic Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Alport Syndrome Panel
method(s): ◦ Sequencing, Next Gen 
CeGaT GmbH - Tübingen, Germany
TAT: 4-6 weeks
price: contact lab
Alport Syndrome Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: 4-6 weeks
price: contact lab
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set
method(s): ◦ Sequencing, Next Gen 
Genomics and Pathology Services, Washington University - St. Louis, MO, USA
TAT: 3-4 weeks
price: contact lab
Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
method(s): ◦ Sequencing, Capillary (Sanger) 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
TAT: 2-4 weeks
price: contact lab
Alport Syndrome Pane (COL4A3, COL4A4, COL4A5)
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Sequencing, Next Gen 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Syndromic deafness (NGS panel of 62 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
Alport syndrome (sequence analysis of COL4A5 gene)
method(s): ◦ Sequencing, Capillary (Sanger) 
CGC Genetics - Porto, Portugal
Syndromic and non syndromic deafness (NGS panel of 127 genes)
method(s): ◦ Sequencing, Next Gen 
CGC Genetics - Porto, Portugal
TAT: contact lab
price: $1,177.00
Alport Syndrome
method(s): ◦ Sequencing, Next Gen 
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia
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: 2-3 days
price: $2,978.00
Alport Syndrome (COL4A3, COL4A4 and COL4A5 exons and splice-site junctions sequencing)
method(s): ◦ Sequencing, Next Gen 
Machaon Diagnostics - Oakland, CA, USA
TAT: 4-6 Weeks
price: contact lab
Alport Syndrome 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
COL4A5
method(s): ◦ Sequencing, Next Gen ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Fulgent Diagnostics - Temple City, CA, USA
TAT: 2-3 weeks
price: $850.00
Alport syndrome NGS panel
method(s): ◦ Del/Dup (CNV) 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $1,350.00
Alport syndrome NGS panel
method(s): ◦ Sequencing, Next Gen 
Connective Tissue Gene Tests - Allentown, PA, USA
TAT: 2-4 weeks
price: $2,100.00
Alport syndrome 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: 8-10 weeks
price: contact lab
NGS Hearing Loss Panel
method(s): ◦ Sequencing, Next Gen 
Greenwood Genetic Center Diagnostic Laboratories - Greenwood, SC, USA
TAT: 3-4 weeks
price: contact lab
Alport Syndrome Panel
method(s): ◦ Sequencing, Next Gen 
Collagen Diagnostic Laboratory - Seattle, WA, USA
TAT: 3-4 weeks
price: contact lab
Nephrotic Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Comprehensive Hearing Loss and Deafness Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Syndromic Hearing Loss Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: contact lab
Alport Syndrome Panel
method(s): ◦ Del/Dup (CNV) ◦ Sequencing, Next Gen 
Blueprint Genetics - Helsinki, Finland
TAT: 3-4 weeks
price: $690.00
Alport Syndrome (AS) via the COL4A5 Gene
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $840.00
Alport Syndrome (AS) Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-4 weeks
price: $1,290.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Deletion/Duplication Panel
method(s): ◦ Del/Dup (CNV) 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,090.00
Alport Syndrome (AS) via the COL4A5 Gene
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,540.00
Alport Syndrome (AS) Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
TAT: 3-5 weeks
price: $1,990.00
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel
method(s): ◦ Sequencing, Next Gen 
PreventionGenetics (Prevention Genetics), Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
X-Linked Hereditary Deafness, Panel Massive Sequencing (NGS) 7 Genes
method(s): ◦ Sequencing, Next Gen 
Reference Laboratory Genetics - Hospitalet de Llobregat, Spain
TAT: 11-12 weeks
price: contact lab
Alport syndrome NGS panel
method(s): ◦ Sequencing, Next Gen 
IBMC-Institute for Cell and Molecular Biology, CGPP - Center for Predictive and Preventive Genetics - Porto, Portugal
TAT: ~2 weeks
price: contact lab
Alport syndrome, X-Linked
method(s): ◦ Sequencing, Capillary (Sanger) ◦ Del/Dup (CNV) 
Centogene AG, Rare Disease Company - Rostock, Germany
TAT: 4 weeks
price: contact lab
Alport syndrome panel
method(s): ◦ Del/Dup (CNV) ◦ Mutation Scanning of Entire Coding Region ◦ Sequencing, Next Gen 
Centogene AG, Rare Disease Company - Rostock, Germany