- Genetic tests
- Ichthyosis (gene panel)
Ichthyosis (gene panel)
This test requires filling out a specific Application Form available in the "document" field
Full name: |
Ichthyosis (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): |
4 - 6 months
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Document(s): |
Skin conditions -KUL.pdf642.48 KB
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Created: |
19 Jul 2019 - 16:01
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Changed: |
19 Sep 2022 - 10:16
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URL: |
- Acral peeling skin syndrome
- Acral self-healing collodion baby
- Acrodermatitis continua of Hallopeau
- Acrodermatitis enteropathica
- Acute neonatal citrullinemia type I
- Annular epidermolytic ichthyosis
- Arthrogryposis-renal dysfunction-cholestasis syndrome
- Autosomal dominant epidermolytic ichthyosis
- Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
- Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- Autosomal dominant palmoplantar keratoderma and congenital alopecia
- Autosomal recessive epidermolytic ichthyosis
- BRESEK syndrome
- Bathing suit ichthyosis
- Biotinidase deficiency
- CEDNIK syndrome
- CHILD syndrome
- CK syndrome
- Carbamoyl-phosphate synthetase 1 deficiency
- Classic maple syrup urine disease
- Combined immunodeficiency due to partial RAG1 deficiency
- Combined immunodeficiency with granulomatosis
- Congenital ichthyosiform erythroderma
- Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
- Congenital reticular ichthyosiform erythroderma
- Cutaneous mastocytoma
- DITRA
- Diffuse palmoplantar keratoderma with painful fissures
- Dowling-Degos disease
- Epidermolysis bullosa simplex with circinate migratory erythema
- Epidermolysis bullosa simplex with mottled pigmentation
- Epidermolytic palmoplantar keratoderma
- Erythrokeratodermia variabilis
- Exfoliative ichthyosis
- Focal palmoplantar keratoderma with joint keratoses
- Generalized pustular psoriasis
- Harlequin ichthyosis
- Hidrotic ectodermal dysplasia
- Holocarboxylase synthetase deficiency
- Hypotrichosis simplex of the scalp
- Ichthyosis follicularis-alopecia-photophobia syndrome
- Ichthyosis hystrix of Curth-Macklin
- Ichthyosis-hypotrichosis syndrome
- Ichthyosis-prematurity syndrome
- Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
- Intermediate maple syrup urine disease
- Intermittent maple syrup urine disease
- Isolated focal non-epidermolytic palmoplantar keratoderma
- KID syndrome
- KRT1-related diffuse nonepidermolytic keratoderma
- Keratoderma hereditarium mutilans
- Keratoderma hereditarium mutilans with ichthyosis
- Keratosis follicularis spinulosa decalvans
- Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
- Lamellar ichthyosis
- Late-onset citrullinemia type I
- Localized epidermolysis bullosa simplex
- MEDNIK syndrome
- MEND syndrome
- Menkes disease
- Monilethrix
- Multiple sulfatase deficiency
- Mutilating palmoplantar keratoderma with periorificial keratotic plaques
- Neonatal ichthyosis-sclerosing cholangitis syndrome
- Neonatal inflammatory skin and bowel disease
- Netherton syndrome
- Neutral lipid storage disease with ichthyosis
- Nodular urticaria pigmentosa
- Omenn syndrome
- Pachyonychia congenita
- Palmoplantar keratoderma-deafness syndrome
- Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
- Peeling skin syndrome type A
- Peeling skin syndrome type B
- Pityriasis rubra pilaris
- Plaque-form urticaria pigmentosa
- Progressive symmetric erythrokeratodermia
- Propionic acidemia
- Pustulosis palmaris et plantaris
- Pyruvate dehydrogenase E3 deficiency
- Recessive X-linked ichthyosis
- Refsum disease
- Rhizomelic chondrodysplasia punctata type 1
- Self-improving collodion baby
- Severe combined immunodeficiency due to DCLRE1C deficiency
- Severe combined immunodeficiency due to complete RAG1/2 deficiency
- Severe dermatitis-multiple allergies-metabolic wasting syndrome
- Sjögren-Larsson syndrome
- Striate palmoplantar keratoderma
- Superficial epidermolytic ichthyosis
- Syndromic recessive X-linked ichthyosis
- Thiamine-responsive maple syrup urine disease
- Trichothiodystrophy
- Typical urticaria pigmentosa
- Vitamin B12-unresponsive methylmalonic acidemia type mut-
- Vitamin B12-unresponsive methylmalonic acidemia type mut0
- X-linked dominant chondrodysplasia punctata
- Xeroderma pigmentosum-Cockayne syndrome complex
- ABCA12
- ABHD5
- ADAM17
- ALDH3A2
- ALOX12B
- ALOXE3
- AP1B1
- AP1S1
- ASPRV1
- ASS1
- ATP7A
- BCKDHA
- BCKDHB
- BTD
- BTK
- CAPN12
- CARD14
- CASP14
- CAST
- CDSN
- CERS3
- CHST8
- CLDN1
- CPS1
- CSTA
- CTSB
- CYP4F22
- DBT
- DCLRE1C
- DLD
- DSG1
- EBP
- ELOVL1
- ELOVL4
- ERCC2
- ERCC3
- FLG
- FLG2
- GBA1
- GJA1
- GJB2
- GJB3
- GJB4
- GJB6
- GTF2E2
- GTF2H5
- HLCS
- IL36RN
- KDSR
- KIT
- KRT1
- KRT10
- KRT14
- KRT16
- KRT2
- KRT5
- KRT6C
- KRT83
- KRT9
- LIPN
- LORICRIN
- MBTPS2
- MMUT
- MPLKIP
- NIPAL4
- NSDHL
- PCCA
- PCCB
- PERP
- PEX7
- PHYH
- PIGL
- PNPLA1
- POMP
- RAG1
- RAG2
- RNF113A
- SDR9C7
- SERPINB7
- SERPINB8
- SGPL1
- SLC25A13
- SLC27A4
- SLC30A2
- SLC39A4
- SNAP29
- SPINK5
- SREBF1
- ST14
- STS
- SULT2B1
- SUMF1
- TBX1
- TGM1
- TGM5
- TRPM4
- VIPAS39
- VPS33B
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Ichthyosis and erythroderma (98 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCA12 95.00 0 NM_173076.3 ABHD5 95.00 0 NM_016006.6 ADAM17 95.00 0 NM_003183.6 ALDH3A2 95.00 0 NM_000382.3 ALOX12B 95.00 0 NM_001139.3 ALOXE3 95.00 0 NM_021628.3 AP1B1 95.00 0 NM_001127.4 AP1S1 95.00 0 NM_001283.5 ASPRV1 95.00 0 NM_152792.4 ASS1 95.00 0 NM_000050.4 ATP7A 95.00 0 NM_000052.7 BCKDHA 95.00 0 NM_000709.4 BCKDHB 95.00 0 NM_183050.4 BTD 95.00 0 NM_001370658.1 BTK 95.00 0 NM_000061.3 CAPN12 95.00 0 NM_144691.4 CARD14 95.00 0 NM_024110.4 CASP14 95.00 0 NM_012114.3 CAST 95.00 0 NM_001042440.5 CDSN 95.00 0 NM_001264.5 CERS3 95.00 0 NM_178842.5 CHST8 95.00 0 NM_001127896.2 CLDN1 95.00 0 NM_021101.5 CPS1 95.00 0 NM_001875.5 CSTA 95.00 0 NM_005213.4 CTSB 95.00 0 NM_001908.5 CYP4F22 95.00 0 NM_173483.4 DBT 95.00 0 NM_001918.5 DCLRE1C 95.00 0 NM_001033855.3 DLD 95.00 0 NM_000108.5 DSG1 95.00 0 NM_001942.4 EBP 95.00 0 NM_006579.3 ELOVL1 95.00 0 NM_001256399.2 ELOVL4 95.00 0 NM_022726.4 ERCC2 95.00 0 NM_000400.4 ERCC3 95.00 0 NM_000122.2 FLG 95.00 0 NM_002016.2 FLG2 95.00 0 NM_001014342.3 GBA1 95.00 0 NM_001005741.3 GJA1 95.00 0 NM_000165.5 GJB2 95.00 0 NM_004004.6 GJB3 95.00 0 NM_024009.3 GJB4 95.00 0 NM_153212.3 GJB6 95.00 0 NM_006783.5 GTF2E2 95.00 0 NM_002095.6 GTF2H5 95.00 0 NM_207118.3 HLCS 95.00 0 NM_000411.8 IL36RN 95.00 0 NM_012275.3 KDSR 95.00 0 NM_002035.4 KIT 95.00 0 NM_000222.3 KRT1 95.00 0 NM_006121.4 KRT10 95.00 0 NM_000421.5 KRT14 95.00 0 NM_000526.5 KRT16 95.00 0 NM_005557.4 KRT2 95.00 0 NM_000423.3 KRT5 95.00 0 NM_000424.4 KRT6C 95.00 0 NM_173086.5 KRT83 95.00 0 NM_002282.3 KRT9 95.00 0 NM_000226.4 LIPN 95.00 0 NM_001102469.2 LORICRIN 95.00 0 NM_000427.3 MBTPS2 95.00 0 NM_015884.4 MPLKIP 95.00 0 NM_138701.4 MMUT 95.00 0 NM_000255.4 NIPAL4 95.00 0 NM_001099287.2 NSDHL 95.00 0 NM_015922.3 PCCA 95.00 0 NM_000282.4 PCCB 95.00 0 NM_000532.5 PERP 95.00 0 NM_022121.5 PEX7 95.00 0 NM_000288.4 PHYH 95.00 0 NM_006214.4 PIGL 95.00 0 NM_004278.4 PNPLA1 95.00 0 NM_001145717.1 POMP 95.00 0 NM_015932.6 RAG1 95.00 0 NM_000448.3 RAG2 95.00 0 NM_000536.4 RNF113A 95.00 0 NM_006978.3 SDR9C7 95.00 0 NM_148897.3 SERPINB7 95.00 0 NM_003784.4 SERPINB8 95.00 0 NM_198833.2 SGPL1 95.00 0 NM_003901.4 SLC25A13 95.00 0 NM_014251.3 SLC27A4 95.00 0 NM_005094.4 SLC30A2 95.00 0 NM_001004434.3 SLC39A4 95.00 0 NM_130849.4 SNAP29 95.00 0 NM_004782.4 SPINK5 95.00 0 NM_006846.4 SREBF1 95.00 0 NM_004176.5 ST14 95.00 0 NM_021978.4 STS 95.00 0 NM_000351.7 SULT2B1 95.00 0 NM_177973.2 SUMF1 95.00 0 NM_182760.4 TBX1 95.00 0 NM_080647.1 TGM1 95.00 0 NM_000359.3 TGM5 95.00 0 NM_201631.4 TRPM4 95.00 0 NM_017636.4 VIPAS39 95.00 0 NM_022067.4 VPS33B 95.00 0 NM_018668.5