COL4A5 gene related symptoms and diseases

All the information presented here about the COL4A5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to COL4A5 gene

Symptoms // Phenotype % Cases
Thickening of the glomerular basement membrane Common - Between 50% and 80% cases
Diffuse glomerular basement membrane lamellation Common - Between 50% and 80% cases
Hematuria Common - Between 50% and 80% cases
Stage 5 chronic kidney disease Common - Between 50% and 80% cases
Proteinuria Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with COL4A5 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hearing impairment
  • Microscopic hematuria
  • Sensorineural hearing impairment
  • Lenticonus
  • Not very common - Between 30% and 50% cases

  • Dysphagia
  • Anterior lenticonus
  • Nephrotic syndrome
  • Nephritis

And 58 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to COL4A5 gene

Here you will find a list of rare diseases related to the COL4A5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


X-LINKED ALPORT SYNDROME



More info about X-LINKED ALPORT SYNDROME

SOURCES: ORPHANET

ALPORT SYNDROME, X-LINKED; ATS


Alternate names

ALPORT SYNDROME, X-LINKED; ATS Is also known as nephropathy and deafness, x-linked

Description

Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999).Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance (OMIM ) is rare (Kashtan, 1999).See also benign familial hematuria (BFH ), a phenotypically similar, but milder disorder.Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (OMIM ) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME ).

Most common symptoms of ALPORT SYNDROME, X-LINKED; ATS

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


More info about ALPORT SYNDROME, X-LINKED; ATS

SOURCES: ORPHANET OMIM

ALPORT SYNDROME, AUTOSOMAL DOMINANT


Description

Alport syndrome classically comprises nephritis, often progressing to renal failure, and sensorineural hearing loss (Alport, 1927). For a general phenotypic description of Alport syndrome, see the X-linked dominant form (OMIM ). Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance is rare (van der Loop et al., 2000).Also see benign familial hematuria (BFH ), a similar but milder disorder also caused by mutation in the COL4A3 gene.An autosomal dominant disorder sharing the clinical features of Alport syndrome but with the addition of macrothrombocytopenia, known as Fechtner syndrome (OMIM ), is caused by mutation in the MYH9 gene (OMIM ) on chromosome 22q11.

Most common symptoms of ALPORT SYNDROME, AUTOSOMAL DOMINANT

  • Hearing impairment
  • Sensorineural hearing impairment
  • Hypertension
  • Myopia
  • Renal insufficiency


More info about ALPORT SYNDROME, AUTOSOMAL DOMINANT

SOURCES: OMIM

X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME


Alternate names

X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME Is also known as xq22.3 microdeletion syndrome, chromosome xq22.3 centromeric deletion syndrome, alport syndrome and diffuse leiomyomatosis, leiomyomatosis, esophageal and vulval, with nephropathy, ats-dl

Description

The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.

Most common symptoms of X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Dysphagia


More info about X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME

SOURCES: OMIM ORPHANET


Potential gene panels for COL4A5 gene

COL4A5 Sequencing and Deletion Analysis Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the COL4A5 gene.

More info about this panel

Complete Alport Syndrome Evaluation Panel

United States.

By Athena Diagnostics Inc Complete Alport Syndrome Evaluation that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

COL4A5 Deletion Analysis Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the COL4A5 gene.

More info about this panel

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2

More info about this panel

NGS Hearing Loss Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A

More info about this panel

Alport syndrome panel Panel

United States.

By Collagen Diagnostic Laboratory University of Washington Alport syndrome panel that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

OtoSCOPE Panel

United States.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1

More info about this panel

Hearing Loss Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD

More info about this panel

COL4A5 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the COL4A5 gene.

More info about this panel

OtoGenome Test for Hearing Loss (110 Genes) Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A

More info about this panel

Exome PLUS Proteinuria/FSGS & Hematuria Panel

United States.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine Exome PLUS Proteinuria/FSGS & Hematuria that also includes the following genes: CFB TRPC6 TSC1 TSC2 C1QA C1QC WT1 C3 NPHS2 ADAMTS13

More info about this panel

Alport Syndrome (COL4A5) Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the COL4A5 gene.

More info about this panel

Alport Syndrome (COL4A5) Seq and Del/Dup Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the COL4A5 gene.

More info about this panel

Alport Syndrome (COL4A5) Del/Dup Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the COL4A5 gene.

More info about this panel

COL4A5 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the COL4A5 gene.

More info about this panel

COL4A5. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the COL4A5 gene.

More info about this panel

COL4A5. MLPA testing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the COL4A5 gene.

More info about this panel

COL4A5. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the COL4A5 gene.

More info about this panel

COL4A3, COL4A4, COL4A5. NextGeneDx.Complete sequencing by NGS Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica COL4A3, COL4A4, COL4A5. NextGeneDx.Complete sequencing by NGS that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport Syndrome Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alport Syndrome Del/Dup Panel that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport Syndrome Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alport Syndrome Seq Analysis that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport Syndrome Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alport Syndrome Seq + Del/Dup Panel that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Audiome (hearing loss panel) Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C

More info about this panel

Connective Tissue Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq Analysis that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 CBS COL1A2

More info about this panel

Connective Tissue Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Seq + Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1

More info about this panel

Connective Tissue Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Connective Tissue Del/Dup Panel that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 MED12 ACTA2 SLC2A10 COL1A2 COL3A1

More info about this panel

Alport syndrome (sequence analysis of COL4A5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the COL4A5 gene.

More info about this panel

Alport Syndrome (deletion/duplication analysis of COL4A5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the COL4A5 gene.

More info about this panel

Alport syndrome (NGS panel for 3 genes) Panel

Portugal.

By CGC Genetics Alport syndrome (NGS panel for 3 genes) that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Syndromic deafness (NGS panel for 62 genes) Panel

Portugal.

By CGC Genetics Syndromic deafness (NGS panel for 62 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR

More info about this panel

Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel

Portugal.

By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA

More info about this panel

Alport syndrome (deletion/duplication analysis on COL4A5 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the COL4A5 gene.

More info about this panel

Alport syndrome, X-linked recessive Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the COL4A5 gene.

More info about this panel

Alport Syndrome Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Alport Syndrome that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP TP53RK ACTN4 SCARB2

More info about this panel

Alport Syndrome (AS) Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Alport Syndrome (AS) Sequencing Panel that also includes the following genes: COL4A3 COL4A4 COL4A5 COL4A6

More info about this panel

Alport Syndrome (AS) via COL4A5 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the COL4A5 gene.

More info about this panel

Alport syndrome Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Alport syndrome Comprehensive panel that also includes the following genes: COL4A3 COL4A4 COL4A5 COL4A6

More info about this panel

Alport syndrome Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Alport syndrome Deletion/ Duplication panel that also includes the following genes: COL4A3 COL4A4 COL4A5 COL4A6

More info about this panel

Alport syndrome NGS panel Panel

United States.

By Connective Tissue Gene Tests Alport syndrome NGS panel that also includes the following genes: COL4A3 COL4A4 COL4A5 COL4A6

More info about this panel

Nephrotic syndrome and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Comprehensive panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Nephrotic syndrome and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Nephrotic syndrome and related disorders NGS panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Nephrotic syndrome and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Nephrotic syndrome and related disorders Deletion / Duplication panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Alport syndrome, X-linked Deletion / Duplication Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL4A5 gene.

More info about this panel

Alport syndrome, X-linked NGS Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL4A5 gene.

More info about this panel

Alport syndrome, X-linked Comprehensive Test Panel

United States.

By Connective Tissue Gene Tests

This panel specifically test the COL4A5 gene.

More info about this panel

Alport syndrome Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Alport syndrome that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Marfan syndrome, EDS and other connective tissue disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Marfan syndrome, EDS and other connective tissue disorders - different panels that also includes the following genes: SKI TGFB2 TGFB3 TGFBR1 TGFBR2 TNXB ACTA2 SLC2A10 CBS GATA5

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Nephrology Endocrinology and Electrolytes - panels Panel

Germany.

By MGZ Medical Genetics Center Nephrology Endocrinology and Electrolytes - panels that also includes the following genes: ROBO2 SALL1 BLK BMP4 BMP7 SIX1 SIX2 SIX5 SLC12A1 SLC12A3

More info about this panel

Alport syndrome Panel

Germany.

By Bioscientia GmbH Center for Human Genetics Alport syndrome that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport syndrome, X-linked Panel

Germany.

By Bioscientia GmbH Center for Human Genetics

This panel specifically test the COL4A5 gene.

More info about this panel

Alport syndrome Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Alport syndrome that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

COL4A5-Related Nephropathy Panel

Czech Republic.

By DNA Diagnostics Laboratory University Hospital Ostrava

This panel specifically test the COL4A5 gene.

More info about this panel

Alport syndrome, X-Linked Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the COL4A5 gene.

More info about this panel

Alport syndrome panel Panel

Germany.

By Centogene AG - the Rare Disease Company Alport syndrome panel that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Syndromic Hearing Loss Panel Panel

Germany.

By CeGaT GmbH Syndromic Hearing Loss Panel that also includes the following genes: SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 TCOF1 TFAP2A TIMM8A TYR

More info about this panel

Alport Syndrome Panel Panel

Germany.

By CeGaT GmbH Alport Syndrome Panel that also includes the following genes: CD151 COL4A3 COL4A4 COL4A5 EIF2AK3 MYH9

More info about this panel

Alport syndrome Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Alport syndrome that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport Syndrome Panel

Estonia.

By Asper Biogene Asper Biogene LLC Alport Syndrome that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Vitreoretinopathy panel Panel

United States.

By Molecular Vision Laboratory Vitreoretinopathy panel that also includes the following genes: ATOH7 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL4A3 COL4A4 COL4A5

More info about this panel

COL4A5 Alport Syndrome Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the COL4A5 gene.

More info about this panel

COL4A5 Gene Sequencing Panel

Colombia.

By GENETIX Centro de Investigación en Genética Humana y Reproductiva

This panel specifically test the COL4A5 gene.

More info about this panel

qChip Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1

More info about this panel

Alport syndrome: COL4A5 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the COL4A5 gene.

More info about this panel

ALPORT, SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ALPORT, SYNDROME that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport syndrome: COL4A5 gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the COL4A5 gene.

More info about this panel

Hearing Loss: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A

More info about this panel

Hearing Loss: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C

More info about this panel

Alport Syndrome NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Alport Syndrome NGS Panel that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

COL4A5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the COL4A5 gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Nephrotic Syndrome Panel Panel

Finland.

By Blueprint Genetics Nephrotic Syndrome Panel that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1

More info about this panel

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10

More info about this panel

Syndromic Hearing Loss Panel Panel

Finland.

By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK

More info about this panel

Alport Syndrome Panel Panel

Finland.

By Blueprint Genetics Alport Syndrome Panel that also includes the following genes: CD151 COL4A3 COL4A4 COL4A5 COL4A6 MYH9

More info about this panel

Alport syndrome, X-Linked Panel

Spain.

By Bioarray

This panel specifically test the COL4A5 gene.

More info about this panel

Alport syndrome, X-Linked Panel

Spain.

By Bioarray

This panel specifically test the COL4A5 gene.

More info about this panel

Alport Syndrome Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Alport Syndrome Gene Set that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set that also includes the following genes: SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 SCARB2 PLCE1 CRB2

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL that also includes the following genes: SGPL1 TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 PLCE1 NUP205 CRB2

More info about this panel

ALPORT SYNDROME Panel

Spain.

By Laboratorio de Genetica Clinica SL ALPORT SYNDROME that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport & Stickler syndrome hearing loss panel Panel

Canada.

By LifeLabs Genetics Alport & Stickler syndrome hearing loss panel that also includes the following genes: COL11A2 COL4A3 COL4A4 COL4A5 COL9A1 COL9A2 EDNRB

More info about this panel

Alport syndrome panel Panel

Canada.

By LifeLabs Genetics Alport syndrome panel that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport Syndrome, Massive Sequencing (NGS) COL4A5 , COL4A3, COL4A4 Genes Panel

Spain.

By Reference Laboratory Genetics Alport Syndrome, Massive Sequencing (NGS) COL4A5 , COL4A3, COL4A4 Genes that also includes the following genes: COL4A3 COL4A4 COL4A5

More info about this panel

Alport Syndrome , Deletions-Duplications (MLPA) COL4A5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the COL4A5 gene.

More info about this panel

Alport Syndrome, Sequencing COL4A5 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the COL4A5 gene.

More info about this panel

X-Linked Hereditary Deafness , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics X-Linked Hereditary Deafness , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SMPX TIMM8A COL4A5 COL4A6 AIFM1 POU3F4 PRPS1

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like IFRD1 POMGNT2 PXDN NGLY1 CTC1 SIX3 DPY19L2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more