- Genetic tests
- Epidermolysis bullosa (gene panel)
Epidermolysis bullosa (gene panel)
This test requires filling out a specific Application Form available in the "document" field
Full name: |
Epidermolysis bullosa (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
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
Turnaround time (maximum): |
6 months
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Document(s): |
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Created: |
19 Jul 2019 - 10:20
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Changed: |
07 Aug 2023 - 10:26
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URL: |
- Acral peeling skin syndrome
- Aplasia cutis congenita
- Autosomal dominant generalized dystrophic epidermolysis bullosa
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- Centripetalis recessive dystrophic epidermolysis bullosa
- Dermatosparaxis Ehlers-Danlos syndrome
- Diffuse palmoplantar keratoderma with painful fissures
- Epidermolysis bullosa simplex due to BP230 deficiency
- Epidermolysis bullosa simplex due to exophilin 5 deficiency
- Epidermolysis bullosa simplex superficialis
- Epidermolysis bullosa simplex with pyloric atresia
- Epithelial recurrent erosion dystrophy
- Exfoliative ichthyosis
- Focal palmoplantar keratoderma with joint keratoses
- Fraser syndrome
- Hereditary hypotrichosis with recurrent skin vesicles
- Hypohidrotic ectodermal dysplasia with immunodeficiency
- Hypotrichosis simplex
- Hypotrichosis simplex of the scalp
- Inherited epidermolysis bullosa
- Intermediate generalized junctional epidermolysis bullosa
- Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
- Junctional epidermolysis bullosa with pyloric atresia
- Keratoderma hereditarium mutilans
- Kindler epidermolysis bullosa
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
- Late-onset junctional epidermolysis bullosa
- Lethal acantholytic erosive disorder
- Localized dystrophic epidermolysis bullosa, acral form
- Localized dystrophic epidermolysis bullosa, nails only
- Localized dystrophic epidermolysis bullosa, pretibial form
- Localized junctional epidermolysis bullosa
- Monilethrix
- Musculocontractural Ehlers-Danlos syndrome
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
- Palmoplantar keratoderma-deafness syndrome
- Peeling skin syndrome type A
- Peeling skin syndrome type B
- Recessive dystrophic epidermolysis bullosa inversa
- Self-improving dystrophic epidermolysis bullosa
- Severe dermatitis-multiple allergies-metabolic wasting syndrome
- Striate palmoplantar keratoderma
- ADAMTS2
- ATP2A2
- ATP2C1
- CAST
- CD151
- CDSN
- CHST14
- CHST8
- COL17A1
- COL5A1
- COL5A2
- COL7A1
- CSTA
- CSTB
- DSC3
- DSG1
- DSG2
- DSG3
- DSG4
- DSP
- DST
- EXPH5
- FERMT1
- FLG2
- GJB2
- GRIP1
- IKBKG
- ITGA3
- ITGA6
- ITGB4
- JUP
- KLHL24
- KRT1
- KRT10
- KRT14
- KRT16
- KRT17
- KRT2
- KRT5
- KRT6A
- KRT6B
- KRT6C
- KRT9
- LAMA3
- LAMB3
- LAMC2
- MMP1
- NID1
- PKP1
- PLEC
- PLOD3
- SERPINB8
- SLC39A4
- SPINK5
- TGM5
- TP63
- UROD
- UROS
- WNT10A
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Epidermolysis bullosa and bladder diseases (60 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADAMTS2 95.00 0 NM_014244.5/ interpretable range CS1>95% ATP2A2 95.00 0 NM_001681.4/ interpretable range CS1>95% ATP2C1 95.00 0 NM_014382.5/ interpretable range CS1>95% CAST 95.00 0 NM_001042440.5/ interpretable range CS1>95% CD151 95.00 0 NM_004357.5/ interpretable range CS1>95% CDSN 95.00 0 NM_001264.5/ interpretable range CS1>95% CHST14 95.00 0 NM_130468.4/ interpretable range CS1>95% CHST8 95.00 0 NM_001127896.2/ interpretable range CS1>95% COL17A1 95.00 0 NM_000494.4/ interpretable range CS1>95% COL5A1 95.00 0 NM_000093.5/ interpretable range CS1>95% COL5A2 95.00 0 NM_000393.5/ interpretable range CS1>95% COL7A1 95.00 0 NM_000094.4/ interpretable range CS1>95% CSTA 95.00 0 NM_005213.4/ interpretable range CS1>95% CSTB 95.00 0 NM_000100.4/ interpretable range CS1>95% DSC3 95.00 0 NM_024423.4/ interpretable range CS1>95% DSG1 95.00 0 NM_001942.4/ interpretable range CS1>95% DSG2 95.00 0 NM_001943.5/ interpretable range CS1>95% DSG3 95.00 0 NM_001944.3/ interpretable range CS1>95% DSG4 95.00 0 NM_177986.5/ interpretable range CS1>95% DSP 95.00 0 NM_004415.4/ interpretable range CS1>95% DST 95.00 0 NM_001723.7/ interpretable range CS1>95% EXPH5 95.00 0 NM_015065.3/ interpretable range CS1>95% FERMT1 95.00 0 NM_017671.5/ interpretable range CS1>95% FLG2 95.00 0 NM_001014342.3/ interpretable range CS1>95% GJB2 95.00 0 NM_004004.6/ interpretable range CS1>95% GRIP1 95.00 0 NM_021150.4/ interpretable range CS1>95% IKBKG 95.00 0 NM_001099857.5/ interpretable range CS1>95% ITGA3 95.00 0 NM_002204.4/ interpretable range CS1>95% ITGA6 95.00 0 NM_000210.4/ interpretable range CS1>95% ITGB4 95.00 0 NM_001005731.3/ interpretable range CS1>95% JUP 95.00 0 NM_002230.4/ interpretable range CS1>95% KLHL24 95.00 0 NM_017644.3/ interpretable range CS1>95% KRT1 95.00 0 NM_006121.4/ interpretable range CS1>95% KRT10 95.00 0 NM_000421.5/ interpretable range CS1>95% KRT14 95.00 0 NM_000526.5/ interpretable range CS1>95% KRT16 95.00 0 NM_005557.4/ interpretable range CS1>95% KRT17 95.00 0 NM_000422.3/ interpretable range CS1>95% KRT2 95.00 0 NM_000423.3/ interpretable range CS1>95% KRT5 95.00 0 NM_000424.4/ interpretable range CS1>95% KRT6A 95.00 0 NM_005554.4/ interpretable range CS1>95% KRT6B 95.00 0 NM_005555.4/ interpretable range CS1>95% KRT6C 95.00 0 NM_173086.5/ interpretable range CS1>95% KRT9 95.00 0 NM_000226.4/ interpretable range CS1>95% LAMA3 95.00 0 NM_000227.6/ interpretable range CS1>95% LAMB3 95.00 0 NM_000228.3/ interpretable range CS1>95% LAMC2 95.00 0 NM_005562.3/ interpretable range CS1>95% MMP1 95.00 0 NM_002421.4/ interpretable range CS1>95% NID1 95.00 0 NM_002508.3/ interpretable range CS1>95% PKP1 95.00 0 NM_001005337.3/ interpretable range CS1>95% PLEC 95.00 0 NM_000445.5/ interpretable range CS1>95% PLOD3 95.00 0 NM_001084.5/ interpretable range CS1>95% SERPINB8 95.00 0 NM_198833.2/ interpretable range CS1>95% SLC39A4 95.00 0 NM_130849.4/ interpretable range CS1>95% SPINK5 95.00 0 NM_006846.4/ interpretable range CS1>95% TGM5 95.00 0 NM_201631.4/ interpretable range CS1>95% TP63 95.00 0 NM_003722.5/ interpretable range CS1>95% UROD 95.00 0 NM_000374.5/ interpretable range CS1>95% UROS 95.00 0 NM_000375.3/ interpretable range CS1>95% WNT10A 95.00 0 NM_025216.3/ interpretable range CS1>95%