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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

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
13 Accredited laboratory test
Examined sequence length
23,1 kb (Core-/Core-canditate-Genes)
37,6 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-GHeredity
ACTN42736AD
ANLN3375AD
CD2AP1920n.k.
CRB23858AR
INF23750AD
MYO1E3327AR
PAX21254AD
TRPC62796AD
APOL11197AR
NPHS13726AR
NPHS21152AR
PLCE16909AR
WT11569AD

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
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
N04.1

Bioinformatics and clinical interpretation

No text defined