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Paediatric Laboratory Medicine

Autoinflammatory Disease: Comprehensive Panel

Background

See related pages for information sheets on Autoinflammatory Disease

Clinical Significance

See related pages for information sheets on Autoinflammatory Disease

Test Name

Autoinflammatory Disease: Comprehensive Panel

Alternate Name/ Synonym

Autoinflammatory Disease Panel: Recurrent Fever Syndrome, Hemophagocytic lymphohistiocytosis (HLH) and Macrophage Activation Syndrome (MAS)

Gene Name

  • RAB27A
  • LPIN2
  • MEFV
  • MVK
  • NLRP12
  • NLRP3
  • TNFRSF1A
  • NLRC4
  • ELANE
  • CECR1
  • NOD2
  • PSMB8
  • PSTPIP1
  • CARD14
  • IL1RN
  • IL36RN
  • TMEM173
  • AP3B1
  • BLOC1S6
  • CD27
  • ITK
  • LYST
  • NLRC4
  • PRF1
  • RAB27A
  • SH2D1A
  • SLC7A7
  • STX11
  • STXBP2
  • UNC13D
  • XIAP

Alternate Gene Name

RAB27, RAM, GS2, HsT18676, KIAA0249, MEF, FMF, TRIM20, LRBP, MK, NALP12, RNO2, PYPAF7, Monarch1, PAN6, CLR19.3, C1orf7, CIAS1, AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1, TNFR1, TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55, CARD12, CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN, ELA2, NE, HNE, HLE, IDGFL, ADGF, IBD1, CARD15, BLAU, CD, PSORAS1, CLR16.3, NLRC2, LMP7, RING10, D6S216E, PSMB5i, beta5i, PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS, PSORS2, CARMA2, BIMP2, IL1RA, ICIL-1RA, IL1F3, IRAP, IL-1RN, MGC10430, IL1F5, FIL1, FIL1(DELTA), FIL1D, IL1HY1, IL1RP3, IL1L1, IL-1F5, IL36RA, MGC29840, FLJ38577, NET23, ADTB3A, HPS2, PA, PLDN, HPS9, TNFRSF7, S152, Tp55, EMT, PSCTK2, LYK, CHS1, CHS, CARD12, CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN, PFP, P1, HPLH2, RAB27, RAM, GS2, HsT18676, IMD5, LYP, XLP, MTCP1, DSHP, XLPD, EBVS, SAP, LPI, y+LAT-1, UNC18B, Hunc18b, Munc13-4, API3, BIRC4, hILP

Test Code

RFS-COMP

Division

Molecular Genetics

Method

Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel. Please see Autoinflammatory Disease: Deletion & Duplication analysis.

External Proficiency Testing

CAP

Turn Around Time

3-4 weeks (Prenatal), 4-6 weeks (Pregnant or Urgent), 8-10 weeks (Routine)

Disease/Condition

  • Autosomal Dominant Familial Periodic Fever
  • Blau Syndrome
  • Cat Eye syndrome
  • Chronic Infantile Neurological Cutaneous and Articular Syndrome
  • Cyclic Neutropenia
  • DADA2 / PAN
  • Familial Cold Autoinflammatory Syndrome 1
  • Familial Mediterranean Fever
  • Hemophagocytic Lymphohistiocytosis (HLH)
  • Hyper IgD Syndrome
  • Macrophage activation syndrome MAS
  • Majeed syndrome
  • Muckle-Wells Syndrome
  • PAPA (Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome)
  • Periodic Fever
  • Pityriasis Rubra Pilaris (PRP)
  • Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne
  • Recurrent fever
  • Severe congenital neutropenia
  • TRAPS

Specimen Type

Blood; please contact the Genome Diagnositcs Laboratory if you want to send gDNA. If sending a prenatal sample, please contact the laboratory prior to sending sample to discuss sample requirements.

For details about specimen requirements, please refer to: Specimen Types & Requirements (PDF).

Minimum Specimen Requirements

5-10 mL EDTA or ACD
0.5 mL EDTA (neonate); minimum 10 ug of DNA in 100 uL low TE (pH8.0)

Storage/Transportation

If sample shipment  >48 hours, ship on ice.

Special Requirements

Special Instructions for Genome Diagnostics Samples

Interpretation

Provided with report