Autoinflammatory Disease Panel: Recurrent Fever Syndrome

Alternate test name

Gene name / Alternate gene name

MEFV
MVK
NLRP12
NLRP3
TNFRSF1A

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

Autoinflammatory diseases (AID) are a heterogeneous group of conditions that lead to inappropriate responses of the innate immune system. Symptoms include, but are not limited to: rash, fevers, edema, arthritis, skin lesions, pulmonary complications, gastrointestinal irritation and hematological abnormalities. Recurrent Fever Syndrome (RFS) is a subtype of the AID. RFS is characterized as the occurrence of episodic fevers that do not have an infectious cause. Onset can range from infancy to adulthood presenting with cyclical or random attacks of fevers (above 39 degrees Celsius) and localized inflammation lasting days to months.

See related information sheets:

Disease condition