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)
37,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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