- Genetic tests
- Periodic Fever (88 genes)
Periodic Fever (88 genes)
Full name: |
Periodic Fever (88 genes)
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Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Carrier diagnosis,
Post-natal Diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
EQA: |
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Accreditation (ISO 15189): |
2021-03-25 / 2024-09-09
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Turnaround time (maximum): |
3 months
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Document(s): |
Demande-postnat_0723_V9_FR.pdf424.89 KB
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Created: |
22 Aug 2019 - 15:04
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Changed: |
19 Jan 2024 - 09:32
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- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
- Behçet disease
- Blau syndrome
- CANDLE syndrome
- CINCA syndrome
- Cherubism
- Complete hydatidiform mole
- DITRA
- Diamond-Blackfan anemia
- Disseminated superficial actinic porokeratosis
- Dowling-Degos disease
- Familial Mediterranean fever
- Familial cold urticaria
- Generalized pustular psoriasis
- Hereditary pediatric Behçet-like disease
- Hyperimmunoglobulinemia D with periodic fever
- Hyperzincemia and hypercalprotectinemia
- Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
- Infantile-onset periodic fever-panniculitis-dermatosis syndrome
- Intermittent hydrarthrosis
- JMP syndrome
- Majeed syndrome
- Muckle-Wells syndrome
- NLRP12-associated hereditary periodic fever syndrome
- Nakajo-Nishimura syndrome
- PAPA syndrome
- PLCG2-associated antibody deficiency and immune dysregulation
- Partial hydatidiform mole
- Periodic fever-infantile enterocolitis-autoinflammatory syndrome
- Pityriasis rubra pilaris
- Polyglucosan body myopathy type 1
- Porokeratosis of Mibelli
- Pustulosis palmaris et plantaris
- Sterile multifocal osteomyelitis with periostitis and pustulosis
- Systemic lupus erythematosus
- Vasculitis due to ADA2 deficiency
- ACP5
- ADA2
- ADAM17
- ADAR
- ADGRE2
- AP1S3
- CARD14
- CASP1
- CASP10
- CDC42
- CEBPE
- COPA
- DNASE2
- DOCK8
- ELF4
- F12
- FAS
- FASLG
- FBLIM1
- HMOX1
- IFIH1
- IKBKG
- IL10
- IL10RA
- IL10RB
- IL1RN
- IL36RN
- LACC1
- LPIN2
- LSM11
- LYN
- MDFIC
- MEFV
- MVK
- NCKAP1L
- NCSTN
- NLRC4
- NLRP1
- NLRP12
- NLRP3
- NLRP7
- NOD2
- OTULIN
- PLCG2
- POLA1
- POMP
- PSENEN
- PSMA3
- PSMB10
- PSMB4
- PSMB8
- PSMB9
- PSMG2
- PSTPIP1
- PTEN
- PYCARD
- RBCK1
- RELA
- RIGI
- RIPK1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNF213
- RNF31
- RNU7-1
- SAMD9L
- SAMHD1
- SERPING1
- SH3BP2
- SHARPIN
- SLC29A3
- STAT2
- STING1
- SYK
- TNFAIP3
- TNFRSF11A
- TNFRSF1A
- TNFRSF9
- TRAP1
- TREX1
- TRNT1
- UBA1
- UNC13B
- USP18
- WAS
- WDR1
- XIAP
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Periodic Fever (88 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACP5 0.00 0 , ADAM17 0.00 0 , ADAR 0.00 0 , AP1S3 0.00 0 , CARD14 0.00 0 , CASP1 0.00 0 , CASP10 0.00 0 , CDC42 0.00 0 , CEBPE 0.00 0 , ADA2 0.00 0 , COPA 0.00 0 , RIGI 0.00 0 , DNASE2 0.00 0 , DOCK8 0.00 0 , ELF4 0.00 0 , ADGRE2 0.00 0 , F12 0.00 0 , OTULIN 0.00 0 , FAS 0.00 0 , FASLG 0.00 0 , FBLIM1 0.00 0 , HMOX1 0.00 0 , IFIH1 0.00 0 , IKBKG 0.00 0 , IL10 0.00 0 , IL10RA 0.00 0 , IL10RB 0.00 0 , IL1RN 0.00 0 , IL36RN 0.00 0 , LACC1 0.00 0 , LPIN2 0.00 0 , LSM11 0.00 0 , LYN 0.00 0 , MDFIC 0.00 0 , MEFV 0.00 0 , MVK 0.00 0 , NCKAP1L 0.00 0 , NCSTN 0.00 0 , NLRC4 0.00 0 , NLRP1 0.00 0 , NLRP12 0.00 0 , NLRP3 0.00 0 , NLRP7 0.00 0 , NOD2 0.00 0 , PLCG2 0.00 0 , POLA1 0.00 0 , POMP 0.00 0 , PSENEN 0.00 0 , PSMA3 0.00 0 , PSMB10 0.00 0 , PSMB4 0.00 0 , PSMB8 0.00 0 , PSMB9 0.00 0 , PSMG2 0.00 0 , PSTPIP1 0.00 0 , PTEN 0.00 0 , PYCARD 0.00 0 , RBCK1 0.00 0 , RELA 0.00 0 , RIPK1 0.00 0 , RNASEH2A 0.00 0 , RNASEH2B 0.00 0 , RNASEH2C 0.00 0 , RNF213 0.00 0 , RNF31 0.00 0 , RNU7-1 0.00 0 , SAMD9L 0.00 0 , SAMHD1 0.00 0 , SERPING1 0.00 0 , SH3BP2 0.00 0 , SHARPIN 0.00 0 , SLC29A3 0.00 0 , STAT2 0.00 0 , SYK 0.00 0 , STING1 0.00 0 , TNFAIP3 0.00 0 , TNFRSF11A 0.00 0 , TNFRSF1A 0.00 0 , TNFRSF9 0.00 0 , TRAP1 0.00 0 , TREX1 0.00 0 , TRNT1 0.00 0 , UBA1 0.00 0 , UNC13B 0.00 0 , USP18 0.00 0 , WAS 0.00 0 , WDR1 0.00 0 , XIAP 0.00 0 ,