NPHS2 gene related symptoms and diseases
All the information presented here about the NPHS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NPHS2 gene
Symptoms // Phenotype | % Cases |
---|---|
Anemia | Rare - less than 30% cases |
Sleep apnea | Rare - less than 30% cases |
Mild proteinuria | Rare - less than 30% cases |
Steroid-resistant nephrotic syndrome | Rare - less than 30% cases |
Obstructive sleep apnea | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with NPHS2 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Focal segmental glomerulosclerosis
- Glomerulosclerosis
- Hypoalbuminemia
- Chronic kidney disease
- Hyperlipidemia
- Edema
- Nephrotic syndrome
- Stage 5 chronic kidney disease
And 7 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NPHS2 gene
Here you will find a list of rare diseases related to the NPHS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEPHROTIC SYNDROME, TYPE 2; NPHS2
Alternate names
NEPHROTIC SYNDROME, TYPE 2; NPHS2 Is also known as nephrotic syndrome, steroid-resistant, autosomal recessive, srn1
Description
Steroid-resistant nephrotic syndrome type 2 is an autosomal recessive disorder characterized clinically by childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema. Kidney biopsies show nonspecific histologic changes such as minimal change, focal segmental glomerulosclerosis (FSGS), and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades (summary by Fuchshuber et al., 1996). Some patients show later onset of the disorder (Tsukaguchi et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).
Most common symptoms of NEPHROTIC SYNDROME, TYPE 2; NPHS2
- Anemia
- Edema
- Renal insufficiency
- Obesity
- Proteinuria
More info about NEPHROTIC SYNDROME, TYPE 2; NPHS2
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS
Alternate names
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS Is also known as familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
More info about FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS
SOURCES: ORPHANET
FAMILIAL IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH MINIMAL CHANGES
SPORADIC IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS
Alternate names
SPORADIC IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS Is also known as sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis
More info about SPORADIC IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH FOCAL SEGMENTAL HYALINOSIS
SOURCES: ORPHANET
SPORADIC IDIOPATHIC STEROID-RESISTANT NEPHROTIC SYNDROME WITH MINIMAL CHANGES
Search interest in NPHS2
Potential gene panels for NPHS2 gene
GeneAware Complete Panel Version 2 (Female) Panel
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By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel![](/img/flags/United-states.png)
GeneAware Complete Panel Version 2 (Male) Panel
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By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel![](/img/flags/United-states.png)
Early Onset Nephrotic Syndrome Evaluation Panel
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By Athena Diagnostics Inc Early Onset Nephrotic Syndrome Evaluation that also includes the following genes: WT1 NPHS2 PLCE1 LAMB2 NPHS1
More info about this panel![](/img/flags/United-states.png)
NPHS2 (Podocin) Sequencing Analysis Panel
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By Athena Diagnostics Inc
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/United-states.png)
Inherited Focal and Segmental Glomerulosclerosis (FSGS) Evaluation Panel
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By Athena Diagnostics Inc Inherited Focal and Segmental Glomerulosclerosis (FSGS) Evaluation that also includes the following genes: TRPC6 NPHS2 ACTN4 INF2
More info about this panel![](/img/flags/United-states.png)
Test for Steroid-Resistant Nephrotic Syndrome Panel
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By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
FSGS Panel Panel
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By Genome Diagnostics Laboratory University Medical Center Utrecht FSGS Panel that also includes the following genes: TRPC6 NPHS2 CD2AP ACTN4 NPHS1
More info about this panel![](/img/flags/Netherlands.png.pagespeed.ce.VVW97w9GfU.png)
NPHS2 Sequencing Panel
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By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/United-states.png)
Exome PLUS Proteinuria/FSGS & Hematuria Panel
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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![](/img/flags/United-states.png)
NPHS2. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
NPHS2. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
NPHS2. Complete sequencing Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
NPHS2, NPHS1, ACTN4. NextGeneDx.Complete sequencing by NGS Panel
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By Instituto de Medicina Genomica Instituto de Medicina Genomica NPHS2, NPHS1, ACTN4. NextGeneDx.Complete sequencing by NGS that also includes the following genes: NPHS2 ACTN4 NPHS1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Steroid-Resistant Nephrotic Syndrome, AR (sequence analysis of NPHS2 gene) Panel
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By CGC Genetics
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Nephrotic syndrome types 1 and 2, congenital (sequence analysis of NPHS1 and NPHS2 genes) Panel
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By CGC Genetics Nephrotic syndrome types 1 and 2, congenital (sequence analysis of NPHS1 and NPHS2 genes) that also includes the following genes: NPHS2 NPHS1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Nephrotic syndrome (NGS panel for 11 genes) Panel
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By CGC Genetics Nephrotic syndrome (NGS panel for 11 genes) that also includes the following genes: WT1 NPHS2 ACTN4 PLCE1 COQ8B DGKE EMP2 LAMB2 ARHGDIA NPHS1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Focal glomerulonephrosis (NGS panel for 11 genes) Panel
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By CGC Genetics Focal glomerulonephrosis (NGS panel for 11 genes) that also includes the following genes: TRPC6 WT1 NPHS2 ANLN CD2AP ACTN4 CRB2 INF2 MYO1E NPHS1
More info about this panel![](/img/flags/Portugal.png.pagespeed.ce.zPu4arfxQG.png)
Nephrotic syndrome, idiopathic, steroid-resistant Panel
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By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Test for Steroid-Resistant Nephrotic Syndrome Panel
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By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel
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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![](/img/flags/United-states.png)
Steroid-Resistant Nephrotic Syndrome via NPHS2 Gene Sequencing with CNV Detection Panel
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By PreventionGenetics PreventionGenetics
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/United-states.png)
Nephrotic syndrome and related disorders Comprehensive panel Panel
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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![](/img/flags/United-states.png)
Nephrotic syndrome and related disorders NGS panel Panel
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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![](/img/flags/United-states.png)
Nephrotic syndrome and related disorders Deletion / Duplication panel Panel
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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![](/img/flags/United-states.png)
Steroid-Resistant Nephrotic Syndrome Panel
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By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Hereditary kidney disorders - different panels Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Nephrology Endocrinology and Electrolytes - panels Panel
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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![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Nephrotic syndrome panel Panel
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By Centogene AG - the Rare Disease Company Nephrotic syndrome panel that also includes the following genes: WT1 NPHS2 PLCE1 DGKE LAMB2 ARHGDIA NPHS1
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Nephrotic syndrome Panel
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By Centogene AG - the Rare Disease Company
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
Nephrotic Syndrome Panel Panel
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By CeGaT GmbH Nephrotic Syndrome Panel that also includes the following genes: SMARCAL1 WT1 NPHS2 PLCE1 COQ8B COQ2 WDR73 DGKE EMP2 ITGA3
More info about this panel![](/img/flags/Germany.png.pagespeed.ce.gZ_H9lXZoQ.png)
NPHS2 Gene Sequencing Panel
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By GENETIX Centro de Investigación en Genética Humana y Reproductiva
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Colombia.png.pagespeed.ce.cwL-yCqT84.png)
NPHS2 Panel
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By Division Human Genetics Medical University Innsbruck
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Austria.png.pagespeed.ce.bmb2o24dtJ.png)
Family Prep Screen Panel
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By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel![](/img/flags/United-states.png)
Nephrotic syndrome type 2: NPHS2 gene sequence analysis Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
NEPHROTIC SYNDROME Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NEPHROTIC SYNDROME that also includes the following genes: STS TRPC6 WT1 NPHS2 CD2AP PLCE1 COQ6 INF2 ITGA3 LAMB2
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Glomerulosclerosis, focal segmental Panel
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By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glomerulosclerosis, focal segmental that also includes the following genes: TRPC6 WT1 NPHS2 CD2AP ACTN4 PLCE1 INF2 MYO1E NPHS1 PAX2
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
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By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel![](/img/flags/United-states.png)
Nephrotic Syndrome, NPHS2-Related (NPHS2) Panel
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By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/United-states.png)
Inheritest NGS, Comprehensive Panel
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By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panel![](/img/flags/United-states.png)
NPHS2 Panel
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By Fulgent Genetics Fulgent Genetics
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/United-states.png)
KidneySeq - 264 Genes Panel
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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![](/img/flags/United-states.png)
Nephrotic Syndrome Panel Panel
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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![](/img/flags/Finland.png.pagespeed.ce.96kqieeVAM.png)
Nephrotic syndrome type 2 Panel
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By Bioarray
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Familial idiopathic steroid-resistant nephrotic syndrome Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Bioarray
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis Panel
![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
By Bioarray
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set Panel
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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![](/img/flags/United-states.png)
SYNDROME WITH FOCAL SEGMENTAL GLOMERULOSCLEROSIS NGS PANEL Panel
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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![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
NEPHROTIC SYNDROME Panel
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By Laboratorio de Genetica Clinica SL NEPHROTIC SYNDROME that also includes the following genes: WT1 NPHS2 LAMB2 NPHS1
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Nephrotic Syndrome Type 2 , Sequencing NPHS2 Gene Panel
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By Reference Laboratory Genetics
This panel specifically test the NPHS2 gene.
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes Panel
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By Reference Laboratory Genetics Congenital Nephrotic Syndrome , Panel Massive Sequencing (NGS) 13 Genes that also includes the following genes: TRPC6 WT1 NPHS2 CD2AP PLCE1 COQ6 INF2 ITGA3 LAMB2 ARHGDIA
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Focal Segmental Glomerulosclerosis , Panel Massive Sequencing (NGS) 10 Genes Panel
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By Reference Laboratory Genetics Focal Segmental Glomerulosclerosis , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: TRPC6 WT1 NPHS2 CD2AP ACTN4 PLCE1 INF2 MYO1E NPHS1 PAX2
More info about this panel![](/img/flags/Spain.png.pagespeed.ce.xXrgJ_nXfh.png)
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
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By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel![](/img/flags/xCanada.png.pagespeed.ic.0PIekyNWJb.png)
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