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SickKids

Autoinflammatory Disease Panel: Recurrent Fever Syndrome

Alternate test name

Recurrent Fever Syndrome and Macrophage Activation Syndrome (MAS)

Gene name / Alternate gene name
  • RAB27A
  • LPIN2
  • MEFV
  • MVK
  • NLRP12
  • NLRP3
  • TNFRSF1A
  • NLRC4
  • ELANE
  • CECR1
  • NOD2
  • PSMB8
  • PSTPIP1
  • CARD14
  • IL1RN
  • IL36RN
  • TMEM173
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
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel by exon targeted microarray.
Expected turn-around time
Prenatal samples/Pregnancy/STAT: 2 weeks Routine: 6 weeks
Specimen type

Blood; please contact the Genome Diagnostics 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).

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Blood- Room Temperature.  Please contact the Genome Diagnostics Laboratory if you want to send gDNA.

If sample shipment  >48 hours, ship on ice.

Special requirements

Special Instructions for Genome Diagnostics Samples

Please ship us the blood sample within 48 hours of collection. 

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
Canada
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab: molecular.lab@sickkids.ca
Email Cytogenetics: cytogenetics.requests@sickkids.ca
Requisition
Autoinflammatory Disease Panel: Recurrent Fever Syndrome - requisition
Background and clinical significance

See related information sheets: 

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
  • 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
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