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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessPodocytopathias, syndromal; differential diagnosis

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Summary

Short information

A comprehensive differential diagnostic panel for Podocytopathies, syndromal, containing 32 genes according to the clinical suspicion

ID
PP9112
Number of genes
1 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
1,3 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
GLA1290NM_000169.3XL

Informations about the disease

Clinical Comment

illness_ClinicalComment_PP9112

 

Synonyms
  • ...ad nomenclature: depending on 1. publication/quotation -> either designated as FSGS or SRNS
  • Alias: Focal Segmental GlomeruloSklerosis, FSGS
  • Alias: Steroid-Resistant Nephrotic Syndrome, SRNS
  • Allelic: Blood group, Raph (CD151)
  • Allelic: Charcot-Marie-Tooth disease, dominant intermediate E (INF2)
  • Allelic: Deafness, AD 17 (MYH9)
  • Allelic: Hemolytic uremic syndrome, atypical, susceptibility to, 7 (DGKE)
  • Allelic: Multiple system atrophy, susceptibility to (COQ2)
  • Allelic: Nail-patella syndrome (LMX1B)
  • Allelic: Ovarian dysgenesis 6 (NUP107)
  • Allelic: Palmoplantar keratoderma and woolly hair (KANK2)
  • Allelic: Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
  • Allelic: Ventriculomegaly with cystic kidney disease (CRB2)
  • Alport syndrome 1, XL (COL4A5)
  • Alport syndrome 2, AR (COL4A3)
  • Alport syndrome 2, AR (COL4A4)
  • Alport syndrome 3, AD (COL4A3)
  • Coenzyme Q10 deficiency, primary, 1 (COQ2)
  • Coenzyme Q10 deficiency, primary, 3 (PDSS2)
  • Coenzyme Q10 deficiency, primary, 6 (COQ6)
  • Congenital disorder of glycosylation, type Ia (PMM2)
  • Congenital disorder of glycosylation, type Ik (ALG1)
  • Duane retraction syndrome 3 (MAFB)
  • End-stage renal disease, nondiabetic, susceptibility to (APOL1)
  • Epidermolysis bullosa of hands + feet (ITGB4)
  • Epidermolysis bullosa simplex 7, with nephropathy + deafness (CD151)
  • Epidermolysis bullosa, junctional, non-Herlitz type (ITGB4)
  • Epidermolysis bullosa, junctional, with pyloric atresia (ITGB4)
  • Epilepsy, progressive myoclonic 4, with/-out renal failure (SCARB2)
  • Focal segmental glomerulosclerosis 10 (LMX1B)
  • Focal segmental glomerulosclerosis 8 (ANLN)
  • Focal segmental glomerulosclerosis 9 (CRB2)
  • Focal segmental glomerulosclerosis [genereviews] (ARHGAP24)
  • Galloway-Mowat syndrome 1 (WDR73)
  • Galloway-Mowat syndrome 2, XL (LAGE3)
  • Galloway-Mowat syndrome 3 (OSGEP)
  • Galloway-Mowat syndrome 4 (TP53RK)
  • Galloway-Mowat syndrome 5 (TPRKB)
  • Galloway-Mowat syndrome 7 (NUP107)
  • Galloway-Mowat syndrome 8 (NUP133)
  • 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)
  • Glomerulotubular nephropathy [panelapp] (FAT1)
  • Hematuria, benign familial (COL4A3)
  • Hematuria, familial benign (COL4A4)
  • Interstitial lung disease, nephrotic syndrome + epidermolysis bullosa, congenital (ITGA3)
  • Interstitial lung disease, nephrotic syndrome, epidermolysis bullosa, congenita (ITGA3)
  • Macrothrombocytopenia + granulocyte inclusions +/- nephritis or sensorineural hearing loss (MYH9)
  • Multicentric carpotarsal osteolysis syndrome (MAFB)
  • Nephronophthisis 12 (TTC21B)
  • Nephrotic syndrome (LAMA5)
  • Nephrotic syndrome (PODXL)
  • Nephrotic syndrome (TNS2)
  • 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 14 (SGPL1)
  • Nephrotic syndrome, type 15 (MAGI2)
  • Nephrotic syndrome, type 16 (KANK2)
  • Nephrotic syndrome, type 17 (NUP85)
  • Nephrotic syndrome, type 18 (NUP133)
  • Nephrotic syndrome, type 19 (NUP160)
  • Nephrotic syndrome, type 2 (NPHS2)
  • Nephrotic syndrome, type 20 (TBC1D8B)
  • Nephrotic syndrome, type 21 (AVIL)
  • Nephrotic syndrome, type 22 (NOS1AP)
  • Nephrotic syndrome, type 3 (PLCE1)
  • Nephrotic syndrome, type 4 (WT1)
  • Nephrotic syndrome, type 5, with/-out ocular abnormalities (LAMB2)
  • Nephrotic syndrome, type 6 (PTPRO)
  • Nephrotic syndrome, type 7 (DGKE)
  • Nephrotic syndrome, type 8 (ARHGDIA)
  • Nephrotic syndrome, type 9 (COQ8B syn ADCK4)
  • Papillorenal syndrome (PAX2)
  • Pierson syndrome (LAMB2)
  • Schimke immunoosseous dysplasia (SMARCAL1)
  • Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (ANKFY1)
  • Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (GAPVD1)
  • Steroid-resistant nephrotic syndrome, nonsyndromic [genereviews] (XPO5)
  • Steroid-resistant nephrotic syndrome, syndromic [genereviews] (E2F3)
  • Steroid-resistant nephrotic syndrome, syndromic [genereviews] (MAFB)
  • Steroid-resistant nephrotic syndrome, syndromic [genereviews] (NXF5)
  • Syndactyly with/-out nephropathy [panelapp] (FAT1)
Heredity, heredity patterns etc.
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined