- Genetic tests
- Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel)
Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel)
Full name: |
Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel)
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Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA,
DNA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
Accreditation (ISO 15189): |
2022-10-07 / 2027-10-06
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Turnaround time (maximum): |
20 - 60 days
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Document(s): | |
Created: |
08 Aug 2019 - 09:23
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Changed: |
11 Dec 2023 - 12:59
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- Alport syndrome
- Autosomal dominant Alport syndrome
- Autosomal recessive Alport syndrome
- CAMOS syndrome
- Congenital nephrotic syndrome, Finnish type
- Denys-Drash syndrome
- Fabry disease
- Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
- Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
- Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
- Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
- Frasier syndrome
- Galloway-Mowat syndrome
- Genetic steroid-resistant nephrotic syndrome
- Hemolytic uremic syndrome with DGKE deficiency
- Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation
- Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis
- Idiopathic steroid-sensitive nephrotic syndrome with minimal change
- Infantile nephronophthisis
- Jeune syndrome
- LAMB2-related infantile-onset nephrotic syndrome
- Leigh syndrome with nephrotic syndrome
- MYH9-related disease
- Nail-patella-like renal disease
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
- Pierson syndrome
- Renal coloboma syndrome
- Renal hypoplasia, bilateral
- Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
- Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes
- Ventriculomegaly-cystic kidney disease
- WAGR syndrome
- X-linked Alport syndrome
- X-linked Alport syndrome-diffuse leiomyomatosis
- ACTN4
- AMN
- ANLN
- APOA1
- APOL1
- ARHGAP24
- ARHGDIA
- AVIL
- B2M
- C3
- CD151
- CD2AP
- CLCN5
- COL4A3
- COL4A4
- COL4A5
- COL4A6
- COQ2
- COQ6
- COQ8A
- COQ8B
- CRB2
- CUBN
- DGKE
- EMP2
- FGA
- FN1
- G6PC1
- GLA
- GON7
- GSN
- INF2
- ITGA3
- KANK2
- KIRREL1
- LAGE3
- LAMA5
- LAMB2
- LMX1B
- LRP2
- LYZ
- MAGI2
- MYH9
- MYO1E
- NOS1AP
- NPHS1
- NPHS2
- NUP107
- NUP133
- NUP160
- NUP205
- NUP85
- NUP93
- OCRL
- OSGEP
- PAX2
- PDSS2
- PLCE1
- PMM2
- PODXL
- PTPRO
- SARS2
- SGPL1
- SLC35A1
- SMARCAL1
- TBC1D8B
- TP53RK
- TPRKB
- TRPC6
- TTC21B
- TTR
- UMOD
- WDR4
- WDR73
- WT1
- XPO5
- YRDC
-
Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTN4 100.00 1 NM_004924.6 AMN 100.00 1 NM_030943.4 ANLN 100.00 1 NM_018685.5 APOA1 100.00 1 NM_000039.3 APOL1 100.00 1 NM_003661.4 ARHGAP24 100.00 1 NM_001025616.3 ARHGDIA 100.00 1 NM_004309.6 AVIL 100.00 1 NM_006576.4 B2M 100.00 1 NM_004048.4 C3 100.00 1 NM_000064.4 CD151 100.00 1 NM_004357.5 CD2AP 100.00 1 NM_012120.3 CLCN5 100.00 1 NM_001127898.4 COL4A3 100.00 1 NM_000091.5 COL4A4 100.00 1 NM_000092.5 COL4A5 100.00 1 NM_033380.3 COL4A6 100.00 1 NM_033641.4 COQ2 100.00 1 NM_001358921.2 COQ6 100.00 1 NM_182476.3 COQ8A 100.00 1 NM_020247.5 COQ8B 100.00 1 NM_024876.4 CRB2 100.00 1 NM_173689.7 CUBN 100.00 1 NM_001081.4 DGKE 100.00 1 NM_003647.3 EMP2 100.00 1 NM_001424.6 FGA 100.00 1 NM_021871.4 FN1 100.00 1 NM_212482.4 G6PC1 100.00 1 NM_000151.4 GLA 100.00 1 NM_000169.3 GSN 100.00 1 NM_198252.3 INF2 100.00 1 NM_022489.4 KANK2 100.00 1 NM_001136191.3 LAMB2 100.00 1 NM_002292.4 LMX1B 100.00 1 NM_001174147.2 LRP2 100.00 1 NM_004525.3 LYZ 100.00 1 NM_000239.3 MAGI2 100.00 1 NM_012301.4 MYH9 100.00 1 NM_002473.6 MYO1E 100.00 1 NM_004998.4 NPHS1 100.00 1 NM_004646.4 NPHS2 100.00 1 NM_014625.4 NUP107 100.00 1 NM_020401.4 NUP133 100.00 1 NM_018230.3 NUP160 100.00 1 NM_015231.3 NUP205 100.00 1 NM_015135.3 NUP85 100.00 1 NM_024844.5 NUP93 100.00 1 NM_014669.5 OCRL 100.00 1 NM_000276.4 PAX2 100.00 1 NM_000278.5 PDSS2 100.00 1 NM_020381.4 PLCE1 100.00 1 NM_016341.4 PMM2 0.00 1 NM_000303.2 / only position Chr16(GRCh38):g.8797616 87976 PTPRO 100.00 1 NM_030667.3 SGPL1 100.00 1 NM_003901.4 SLC35A1 100.00 1 NM_006416.5 TBC1D8B 100.00 1 NM_017752.3 TRPC6 100.00 1 NM_004621.6 TTC21B 100.00 1 NM_024753.5 TTR 100.00 1 NM_000371.4 UMOD 100.00 1 NM_003361.4 WDR73 100.00 1 NM_032856.5 WT1 100.00 1 NM_024426.6 GON7 100.00 1 NM_032490.5 ITGA3 100.00 1 NM_002204.4 KIRREL1 100.00 1 NM_018240.7 LAGE3 100.00 1 NM_006014.5 LAMA5 100.00 1 NM_005560.6 NOS1AP 100.00 1 NM_014697.3 OSGEP 100.00 1 NM_017807.4 PODXL 94.00 1 NM_001018111.3 SARS2 100.00 1 NM_017827.4 SMARCAL1 100.00 1 NM_014140.4 TP53RK 100.00 1 NM_033550.4 TPRKB 100.00 1 NM_016058.5 WDR4 100.00 1 NM_018669.6 XPO5 100.00 1 NM_020750.3 YRDC 100.00 1 NM_024640.4