- Genetic tests
- Tubulopathy (gene panel)
Tubulopathy (gene panel)
Full name: |
Tubulopathy (gene panel)
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Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
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 - 15:05
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Changed: |
22 Jan 2024 - 10:04
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- Adult hypophosphatasia
- Apparent mineralocorticoid excess
- Autosomal dominant distal renal tubular acidosis
- Autosomal dominant hypocalcemia
- Autosomal dominant hypophosphatemic rickets
- Autosomal dominant primary hypomagnesemia with hypocalciuria
- Autosomal recessive distal renal tubular acidosis
- Autosomal recessive hypophosphatemic rickets
- Autosomal recessive infantile hypercalcemia
- Autosomal recessive proximal renal tubular acidosis
- Bartter syndrome type 3
- Childhood-onset hypophosphatasia
- Cystinuria type A
- Distal renal tubular acidosis with anemia
- Dominant hypophosphatemia with nephrolithiasis or osteoporosis
- EAST syndrome
- Familial hypocalciuric hypercalcemia type 1
- Familial hypocalciuric hypercalcemia type 2
- Familial hypocalciuric hypercalcemia type 3
- Familial primary hypomagnesemia with normocalciuria and normocalcemia
- Generalized pseudohypoaldosteronism type 1
- Gitelman syndrome
- Hereditary hypophosphatemic rickets with hypercalciuria
- Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
- Hypotonia-cystinuria syndrome
- Idiopathic hypercalciuria
- Infantile hypophosphatasia
- Isolated autosomal dominant hypomagnesemia, Glaudemans type
- Nephrogenic diabetes insipidus
- Nephrogenic syndrome of inappropriate antidiuresis
- Primary Fanconi renotubular syndrome
- Primary hyperoxaluria type 1
- Primary hyperoxaluria type 2
- Primary hyperoxaluria type 3
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
- Primary hypomagnesemia with secondary hypocalcemia
- Pseudohypoaldosteronism type 2D
- Pseudohypoaldosteronism type 2E
- Pterin-4 alpha-carbinolamine dehydratase deficiency
- REN-related autosomal dominant tubulointerstitial kidney disease
- Renal pseudohypoaldosteronism type 1
- Renal tubular dysgenesis of genetic origin
- UMOD-related autosomal dominant tubulointerstitial kidney disease
- X-linked hypophosphatemia
- ADCY10
- AGT
- AGTR1
- AGXT
- ALDOB
- ALPL
- AP2S1
- APRT
- AQP2
- ATP6V0A4
- ATP6V1B1
- ATP7B
- AVPR2
- BSND
- CA2
- CACNA1H
- CASR
- CDC73
- CLCN2
- CLCN5
- CLCNKA
- CLCNKB
- CLDN10
- CLDN16
- CLDN19
- CNNM2
- CTNS
- CUL3
- CYP11B1
- CYP17A1
- CYP24A1
- DMP1
- EGF
- EGFR
- EHHADH
- ENPP1
- FAH
- FAM20A
- FAN1
- FANCA
- FGF23
- FOXI1
- FXYD2
- G6PC1
- GALT
- GATM
- GNA11
- GRHPR
- HNF1A
- HNF1B
- HNF4A
- HOGA1
- HPRT1
- HSD11B2
- KCNJ1
- KCNJ10
- KCNJ16
- KCNJ5
- KL
- KLHL3
- LAGE3
- LDHD
- LRP2
- MAGED2
- MEN1
- MOCOS
- NHERF1
- NR3C2
- OCRL
- PCBD1
- PHEX
- PRPS1
- REN
- RRAGD
- SCNN1A
- SCNN1B
- SCNN1G
- SEC61A1
- SLC12A1
- SLC12A3
- SLC16A12
- SLC22A12
- SLC26A1
- SLC2A2
- SLC2A9
- SLC34A1
- SLC34A3
- SLC36A2
- SLC3A1
- SLC41A1
- SLC4A1
- SLC4A4
- SLC5A1
- SLC5A2
- SLC6A19
- SLC6A20
- SLC7A9
- TRPM6
- UMOD
- VDR
- VIPAS39
- VPS33B
- WDR72
- WFS1
- WNK1
- WNK4
- XDH
-
Tubulopathy/Nephrolithiasis (106 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY10 100.00 1 NM_018417.6 AGXT 100.00 1 NM_000030.3 ALDOB 100.00 1 NM_000035.4 ALPL 100.00 1 NM_000478.6 AP2S1 100.00 1 NM_004069.6 AQP2 100.00 1 NM_000486.6 ATP6V0A4 100.00 1 NM_020632.3 ATP6V1B1 100.00 1 NM_001692.4 ATP7B 100.00 1 NM_000053.4 AVPR2 100.00 1 NM_000054.7 BSND 100.00 1 NM_057176.3 CASR 100.00 1 NM_000388.4 CLCN5 100.00 1 NM_001127898.4 CLCNKB 100.00 1 NM_000085.5 CLDN10 100.00 1 NM_006984.5 CLDN16 100.00 1 NM_006580.4 CLDN19 100.00 1 NM_148960.3 CNNM2 100.00 1 NM_017649.5 CTNS 100.00 1 NM_004937.3 CUL3 100.00 1 NM_003590.5 CYP24A1 100.00 1 NM_000782.5 EGF 100.00 1 NM_001963.6 EGFR 100.00 1 NM_005228.5 EHHADH 100.00 1 NM_001966.4 FAH 100.00 1 NM_000137.4 FAN1 100.00 1 NM_014967.5 FGF23 100.00 1 NM_020638.3 FXYD2 100.00 1 NM_001680.5 G6PC1 100.00 1 NM_000151.4 GALT 100.00 1 NM_000155.4 GATM 100.00 1 NM_001482.3 GNA11 100.00 1 NM_002067.5 GRHPR 100.00 1 NM_012203.2 HNF1B 100.00 1 NM_000458.4 HOGA1 100.00 1 NM_138413.4 HSD11B2 100.00 1 NM_000196.4 KCNJ1 100.00 1 NM_153766.3 KCNJ10 100.00 1 NM_002241.5 KLHL3 100.00 1 NM_017415.3 MAGED2 100.00 1 NM_177433.3 NR3C2 100.00 1 NM_000901.5 OCRL 100.00 1 NM_000276.4 PCBD1 100.00 1 NM_000281.4 PHEX 100.00 1 NM_000444.6 REN 100.00 1 NM_000537.4 SCNN1A 100.00 1 NM_001038.6 SCNN1B 100.00 1 NM_000336.3 SCNN1G 100.00 1 NM_001039.4 SEC61A1 100.00 1 NM_013336.4 SLC12A1 100.00 1 NM_000338.3 SLC12A3 100.00 1 NM_001126108.2 SLC2A2 100.00 1 NM_000340.2 SLC34A1 100.00 1 NM_003052.5 SLC34A3 100.00 1 NM_001177316.2 SLC3A1 100.00 1 NM_000341.4 SLC4A1 100.00 1 NM_000342.4 SLC4A4 100.00 1 NM_001098484.3 SLC5A2 100.00 1 NM_003041.4 SLC7A9 100.00 1 NM_014270.5 NHERF1 100.00 1 NM_004252.5 TRPM6 100.00 1 NM_017662.5 UMOD 100.00 1 NM_003361.4 VDR 100.00 1 NM_000376.3 VIPAS39 100.00 1 NM_001193315.2 VPS33B 100.00 1 NM_018668.5 WNK1 100.00 1 NM_018979.4 WNK4 100.00 1 NM_032387.5 AGTR1 100.00 1 NM_000685.5 APRT 100.00 1 NM_000485.3 CA2 100.00 1 NM_000067.3 CACNA1H 100.00 1 NM_021098.3 CLCN2 100.00 1 NM_004366.6 CLCNKA 100.00 1 NM_004070.4 CYP11B1 100.00 1 NM_000497.4 CYP17A1 100.00 1 NM_000102.4 DMP1 100.00 1 NM_004407.4 ENPP1 100.00 1 NM_006208.3 FANCA 100.00 1 no FAM20A 100.00 1 NM_017565.4 FOXI1 100.00 1 NM_012188.5 HNF1A 100.00 1 NM_000545.8 HNF4A 100.00 1 NM_175914.5 HPRT1 100.00 1 NM_000194.3 KCNJ16 100.00 1 NM_170741.4 KCNJ5 100.00 1 NM_000890.5 KL 100.00 1 NM_004795.4 LAGE3 100.00 1 NM_006014.5 LDHD 100.00 1 NM_194436.3 LRP2 100.00 1 NM_004525.3 MEN1 100.00 1 NM_001370259.2 MOCOS 100.00 1 NM_017947.4 PRPS1 100.00 1 NM_002764.4 SLC16A12 100.00 1 NM_213606.4 SLC22A12 100.00 1 NM_144585.4 SLC2A9 100.00 1 NM_020041.3 SLC36A2 100.00 1 NM_181776.3 SLC5A1 100.00 1 NM_000343.4 SLC6A19 100.00 1 NM_001003841.3 SLC6A20 100.00 1 NM_020208.4 WDR72 100.00 1 NM_182758.4 WFS1 100.00 1 NM_006005.3 XDH 100.00 1 NM_000379.4 AGT 100.00 1 NM_001384479.1 CDC73 100.00 1 NM_024529.5 RRAGD 100.00 1 NM_021244.5 SLC26A1 100.00 1 NM_022042.4 SLC41A1 100.00 1 NM_173854.6