Focal segmental glomerulosclerosis (FSGS) is a pathologic entity associated clinically with proteinuria, the nephrotic syndrome (NPHS), and progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD) (Meyrier, 2005).Dominant intermediate Charcot-Marie-Tooth disease E and focal segmental glomerulonephritis (CMTDIE ) is also caused by heterozygous mutation in the INF2 gene.For a general phenotypic description and a discussion of genetic heterogeneity of focal segmental glomerulosclerosis and nephrotic syndrome, see FSGS1 (OMIM ).
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Focal Segmental Glomerulosclerosis 5; Fsgs5 Is also known as glomerulosclerosis, focal segmental, 5.
Panel Name, Specifity and genes Tested/covered |
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![]() By Athena Diagnostics Inc (United States).
INF2
Specificity
100 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
TRPC6, NPHS2, ACTN4, INF2
Specificity
25 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SBF1, SLC12A6, SPG11, SURF1, TFG, VCP, YARS, PRX, BSCL2, GDAP1, TRIM2, KIF1B, LITAF, FIG4, MFN2, TRPV4, FGD4, AARS, GNB4, SBF2 , (...)
View the complete list with 34 more genes
Specificity
2 %
Genes
100 % |
![]() By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).
CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA , (...)
View the complete list with 12 more genes
Specificity
4 %
Genes
100 % |
![]() By ARUP Laboratories, Molecular Genetics and Genomics (United States).
SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)
View the complete list with 58 more genes
Specificity
2 %
Genes
100 % |
![]() By ARUP Laboratories, Molecular Genetics and Genomics (United States).
SBF1, SCN9A, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TFG, YARS, PRX, SLC5A7, ARHGEF10, WNK1, BSCL2, GDAP1, TRIM2, CCT5, KIF1B, LITAF, FIG4 , (...)
View the complete list with 58 more genes
Specificity
2 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
INF2
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
SBF1, SCN11A, SCN9A, DST, SLC12A6, SOX10, ATL1, SPTLC1, SPTLC2, TWNK, TFG, TTR, YARS, PRX, ARHGEF10, WNK1, BSCL2, ABHD12, GDAP1, TRIM2 , (...)
View the complete list with 54 more genes
Specificity
2 %
Genes
100 % |
You can check the following sources for additional information.
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