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SickKids

Autoinflammatory Diseases (AID) panel

Gene name / Alternate gene name
  • ARPC1B
  • CARD14
  • CDC42
  • CECR1 (ADA2)
  • COPA
  • ELANE
  • IL1RN
  • IL36RN
  • LACC1
  • LPIN2
  • NLRC4
  • NOD2
  • OTULIN
  • PLCG2
  • POMP
  • PSMB8
  • PSTPIP1
  • RAB27A
  • RBCK1
  • RIPK1
  • SH3BP2
  • SLC29A3
  • TMEM173 (STING1)
  • TNFAIP3
  • TRNT1
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
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.

Disease condition
  • Majeed Syndrome
  • DADA2; Sneddon syndrome/ Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (polyarteritis nodosa)
  • PRAAS (Proteasome-associated autoinflammatory syndrome 1) and digenic forms (CANDLE Syndrome)
  • Deficiency of Interleukin-1 receptor antagonist - DIRA
  • Pustular Psoriasis 14 (Deficiency of Interleukin-36 receptor antagonist) - DITRA
  • Griscelli disease, type 2
  • Autoinflammation, panniculitis, and dermatosis syndrome
  • Immunodeficiency 57 with autoinflammation/ Autoinflammation with episodic fever and lymphadenopathy
  • Histiocytosis-lymphadenopathy plus syndrome
  • Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay/ Retinitis pigmentosa and erythrocytic microcytosis
  • Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia
  • Monogenic Juvenile arthritis
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma/ Proteasome-associated autoinflammatory syndrome 2
  • Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome
  • Autoimmune-mediated lung disease and arthritis/ COPA Syndrome
  • CARD14-mediated pustular psoriasis (Psoriasis 2), Pityricisis Rubra Pilaris (PRP)
  • Autoinflammation, antibody deficiency, and immune dysregulation syndrome/ Familial cold autoinflammatory syndrome 3 - APLAID
  • Cyclic Neutropenia/ Neutropenia, severe congenital 1, autosomal dominant
  • STING-Associated Vasculopathy, Infantile-Onset - SAVI
  • Blau syndrome
  • Autoinflammation with infantile enterocolitis/ Familial cold autoinflammatory syndrome 4
  • Polyglucosan body myopathy 1 with or without immunodeficiency
  • Cherubism
  • Autoinflammatory syndrome, familial, Behcet-like; HA20
  • Takenouchi-Kosaki syndrome; NOCARH Syndrome
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