Autoinflammatory Diseases 20 Gene Panel: Postnatal Diagnosis Routine by Sequencing of the entire coding region of gene(s) at Leeds RGC in 112 days
| Test | Autoinflammatory Diseases 20 Gene Panel |
|---|---|
| Service level | Sequencing of the entire coding region of gene (s) |
| Referral categories | Postnatal Diagnosis Routine |
| Laboratory | Leeds RGC |
| Calendar Days | 112 |
| NHS Price | £860 |
| EQA Schemes | Accredited Generic Technical Scheme |
| Notes |
Laboratory details
Yorkshire Regional Genetics Service
The Leeds Teaching Hospital NHS Trust
- Website: Molecular Genetics
- Website: Cytogenetics
Accreditations
| Accreditation | Number | Status |
|---|---|---|
| UKAS: ISO15189 | 8096 (Molecular) | Active |
| UKAS: ISO15189 | 8105 (Cytogenetics) | Active |
Addresses
Molecular Genetics Correspondence
Leeds Genetics Laboratory
Ashley Wing
St James’s University Hospital Leeds
LS9 7TF
United Kingdom
Contacts
| Title | Telephone | Fax | |
|---|---|---|---|
| Molecular Genetics | leedsth-tr.dna@nhs.net | 0113 2065205 | 0113 2467090 |
| Ruth Charlton (Head of Molecular Genetics) | ruth.charlton1@nhs.net |
Cytogenetics Correspondence
Leeds Genetics Laboratory
Ashley Wing
St James’s University Hospital Leeds
LS9 7TF
United Kingdom
Contacts
| Title | Telephone | Fax | |
|---|---|---|---|
| Paul Roberts (Head of Cytogenetics) | paul.roberts16@nhs.net | 0113 2065419 | 0113 2066201 |
| Duty Scientist | leedsth-tr.cytogenetics@nhs.net |
Core Cytogenetic Service Information
| Disorders | Symbol | MIM | Links |
|---|---|---|---|
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation, PLCG2-Associated | APLAID | 614878 | Genetic Test Registry |
| Autoinflammation, Lipodystrophy, And Dermatosis Syndrome Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy And Elevated Temperature SyndromeJoint Contractures, Muscular Atrophy, Microcytic Anemia, And Panniculitis-Induced LipodystrophyNakajo-Nishimura Syndrome | ALDD NKJO|JMP SYNDROME|CANDLE | 256040 | Genetic Test Registry |
| Autoinflammatory Syndrome, Familial, Behcet-Like-0 | AISBL-0 | 616744 | Genetic Test Registry |
| Blau Syndrome Granulomatosis, Familial Juvenile Systemic | Arthrocutaneouveal Granulomatosis|Jabs Syndrome |Granulomatous Inflammatory Arthritis, Dermatitis, And Uveitis, Familial | Granulomatosis, Familial, Blau Type | BLAUS ACUG | 186580 | Genetic Test Registry |
| CINCA Syndrome | CINCA | 607115 | Genetic Test Registry |
| Familial Cold Autoinflammatory Syndrome 1 | FCAS1 | 120100 | Genetic Test Registry |
| Familial Cold Autoinflammatory Syndrome 2-0 | FCAS2-0 | 611762 | Genetic Test Registry |
| Familial Cold Autoinflammatory Syndrome 3 Antibody Deficiency And Immune Dysregulation, Plcg2-Associated | Familial Atypical Cold Urticaria | FCAS3– PLAID|FACU | 614468 | Genetic Test Registry |
| Familial Mediterranean Fever Polyserositis, Familial ParoxysmalPolyserositis, Recurrent | FMF | 249100 | Genetic Test Registry |
| Familial Mediterranean Fever, Autosomal Dominant Fmf, Autosomal Dominant | 134610 | Genetic Test Registry | |
| Histiocytosis-Lymphadenopathy Plus Syndrome Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness | Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without H | PHID|HJCD|SHML | 602782 | Genetic Test Registry |
| Hyper-IgD Syndrome Hyperimmunoglobulinemia D And Periodic Fever SyndromePeriodic Fever, Dutch Type | HIDS | 260920 | Genetic Test Registry |
| Inflammatory Bowel Disease 25, Autosomal Recessive Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive | IBD25 | 612567 | Genetic Test Registry |
| Inflammatory Bowel Disease 28, Autosomal Recessive Inflammatory Bowel Disease, Early-Onset, Autosomal Recessive | IBD28 | 613148 | Genetic Test Registry |
| Mevalonic Aciduria | MEVA | 610377 | Genetic Test Registry |
| Muckle-Wells Syndrome Urticaria-Deafness-Amyloidosis Syndrome | MWS | 191900 | Genetic Test Registry |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis | OMPP | 612852 | Genetic Test Registry |
| Osteopetrosis, Autosomal Recessive 7 Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia | OPTB7 | 612301 | Genetic Test Registry |
| Periodic Fever, Familial, Autosomal Dominant Familial Hibernian Fever FPF Hibernian Fever, FamilialTnf Receptor-Associated Periodic SyndromeTumor Necrosis Factor Receptor-Associated Periodic Syndrome | FHF TRAPS | 142680 | Genetic Test Registry |
| Pityriasis Rubra Pilaris | PRP | 173200 | Genetic Test Registry |
| Genes | Symbol | MIM | HGNC | Links |
|---|---|---|---|---|
| adenosine deaminase 2 cat eye syndrome chromosome region, candidate 1 | ADA2 ADGF CECR1 IDGFL | 607575 | 1839 | |
| caspase recruitment domain family member 14 BIMP2 CARMA2 | CARD14 PSORS2 | 607211 | 16446 | |
| interleukin 1 receptor antagonist | IL1RN ICIL-1RA IL-1RN IL1F3 IL1RA IRAP MGC10430 | 147679 | 6000 | |
| interleukin 10 cytokine synthesis inhibitory factor | IL10 CSIF | 124092 | 5962 | |
| interleukin 10 receptor subunit alpha interleukin 10 receptorinterleukin 10 receptor, alpha | IL10RA CD210 | 146933 | 5964 | |
| interleukin 10 receptor subunit beta cytokine receptor family II, member 4interleukin 10 receptor, beta | IL10RB D21S66 | 123889 | 5965 | |
| interleukin 36 receptor antagonist FIL1FIL1(DELTA)FIL1DIL-1F5IL1HY1IL1L1IL1RP3IL36RAMGC29840 | IL36RN IL1F5 | 605507 | 15561 | |
| MEFV, pyrin innate immunity regulator familial mediterranean fever genemarenostrinMediterranean feverpyrin | MEFV FMF MEF TRIM20 | 608107 | 6998 | |
| mevalonate kinase lh receptor mrna-binding proteinmevalonate kinasemevalonate kinase (mevalonic aciduria)mevalonate kinase deficiency, includedmevalonicaciduria, included | MVK LRBPMK | 251170 | 7530 | |
| NLR family, pyrin domain containing 12 leucine rich repeat and PYD containing 12 Monarch1 nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12 | NLRP12 CLR19.3 NACHT NALP12 PAN6 PYPAF7 RNO2 | 609648 | 22938 | |
| NLR family, pyrin domain containing 3 | NLRP3 CIAS1 | 606416 | 16400 | |
| nucleotide binding oligomerization domain containing 2 BLAUCDCLR16.3NLRC2PSORAS1 | NOD2 CARD15 IBD1 | 605956 | 5331 | |
| phospholipase C, gamma 2 phospholipase C, gamma 2 (phosphatidylinositol-specific)phospholipase C, phosphatidylinositol-specific | PLCG2 | 600220 | 9066 | |
| proline-serine-threonine phosphatase interacting protein 1 CD2BP1CD2BP1LCD2BP1SH-PIPPAPASPSTPIP | PSTPIP1-0 | 606347 | 9580 | |
| proteasome subunit beta 4 proteasome (prosome, macropain) subunit, beta type, 4 | PSMB4 HN3 PROS26 | 602177 | 9541 | |
| solute carrier family 29 member 3 ENT3FLJ11160 | SLC29A3-0 | 612373 | 23096 | |
| TNF alpha induced protein 3 tumor necrosis factor, alpha-induced protein 3 | TNFAIP3 A20 OTUD7C | 191163 | 11896 | |
| TNF receptor superfamily member 11A loss of heterozygosity, chromosome 18, region 1osteoclast differentiation factor receptorosteosarcoma tumor suppressorPDB2 genereceptor activator of NF-KAPPA-Btumor necrosis factor receptor superfamily, member 11atumor necrosis factor receptor superfamily, member 11a, NFKB activator | TNFRSF11A FEO | 603499 | 11908 | |
| TNF receptor superfamily member 1A TNFR, 55-kdTNFR, 60-kdtumor necrosis factor receptor 1tumor necrosis factor receptor superfamily, member 1Atumor necrosis factor-alpha receptor | TNFRSF1A CD120A TNF-R TNF-R-I TNF-R55 TNFAR TNFR1 TNFR60 | 191190 | 11916 | |
| transmembrane protein 173 stimulator of interferon genesSTING | TMEM173 ERIS FLJ38577 MITA MPYS NET23 | 612374 | 27962 |
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