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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessGlomerulonephritis, focal segmental; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for focal segmental glomerulonephritis comprising 8 and altogether 36 curated genes according to the clinical signs

ID
GP9685
Number of genes
14 Accredited laboratory test
Examined sequence length
23,1 kb (Core-/Core-canditate-Genes)
38,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ACTN42736NM_004924.6AD
ANLN3375NM_018685.5AD
CD2AP1920NM_012120.3n.k.
CRB23858NM_173689.7AR
INF23750NM_022489.4AD
MYO1E3327NM_004998.4AR
PAX21254NM_003987.5AD
TRPC62796NM_004621.6AD
APOL11197NM_001136540.2AR, Sus
GLA1290NM_000169.3XL
NPHS13726NM_004646.4AR
NPHS21152NM_014625.4AR
PLCE16909NM_016341.4AR
WT11569NM_024426.6AD

Informations about the disease

Clinical Comment

A pathologic finding in several renal disorders manifesting clinically as proteinuria + progressive renal dysfunction. Some patients develop nephrotic syndrome, which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, edema. FSGS patients may have proteinuria in the nephrotic range without other features of nephrotic syndrome.

 

Synonyms
  • Allelic: Brain small vessel disease 2 (COL4A2)
  • Allelic: Cystinosis, ocular nonnephropathic (CTNS)
  • Allelic: Deafness, XL 6 (COL4A6)
  • Allelic: Denys-Drash syndrome (WT1)
  • Allelic: Fabry disease, cardiac variant (GLA)
  • Allelic: Frasier syndrome (WT1)
  • Allelic: Meacham syndrome (WT1)
  • Allelic: Mesothelioma, somatic (WT1)
  • Allelic: Nail-patella syndrome (LMX1B)
  • Allelic: Ovarian dysgenesis 6 (NUP107)
  • Allelic: Palmoplantar keratoderma woolly hair (KANK2)
  • Allelic: Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
  • Allelic: Wilms tumor, type 1 (WT1)
  • Alport syndrome 1, XL (COL4A5)
  • Alport syndrome 2, AR (COL4A3, COL4A4)
  • Alport syndrome 3, AD (COL4A3)
  • Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
  • Cystinosis, atypical nephropathic (CTNS)
  • Cystinosis, late-onset juvenile or adolescent nephropathic (CTNS)
  • Cystinosis, nephropathic (CTNS)
  • Fabry disease (GLA)
  • Focal segmental glomerulosclerosis + neurodevelopmental syndrome (TRIM8)
  • Focal segmental glomerulosclerosis 10 (LMX1B)
  • Focal segmental glomerulosclerosis 8 (ANLN)
  • Focal segmental glomerulosclerosis 9 (CRB2)
  • Galloway-Mowat syndrome 7 (NUP107)
  • Glomerulosclerosis, focal segmental 1 (ACTN4)
  • Glomerulosclerosis, focal segmental 2 (TRPC6)
  • Glomerulosclerosis, focal segmental 3 (CD2AP)
  • Glomerulosclerosis, focal segmental 4, susceptibility to (APOL1)
  • Glomerulosclerosis, focal segmental 5 (INF2)
  • Glomerulosclerosis, focal segmental 6 (MYO1E)
  • Glomerulosclerosis, focal segmental 7 (PAX2)
  • Hematuria, benign familial (COL4A3, COL4A4)
  • Nephronophthisis 12 (TTC21B)
  • Nephrotic syndrome, type 1 (NPHS1)
  • Nephrotic syndrome, type 10 (EMP2)
  • Nephrotic syndrome, type 11 (NUP107)
  • Nephrotic syndrome, type 12 (NUP93)
  • Nephrotic syndrome, type 13 (NUP205)
  • Nephrotic syndrome, type 15 (MAGI2)
  • Nephrotic syndrome, type 16 (KANK2)
  • Nephrotic syndrome, type 2 (NPHS2)
  • Nephrotic syndrome, type 3 (PLCE1)
  • Nephrotic syndrome, type 4 (WT1)
  • Nephrotic syndrome, type 6 (PTPRO)
  • Nephrotic syndrome, type 8 (ARHGDIA)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Sus
  • XL
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined