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Autoinflammatory Diseases (AID) panel
- 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
Sequencing (all genes) by Next Generation Sequencing. Deletion & duplication analysis is also available for the genes on this panel by exon targeted microarray.
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).
Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Blood- Room Temperature. Please contact the Genome Diagnostics Laboratory if you want to send gDNA.
If sample shipment >48 hours, ship on ice.
Special Instructions for Genome Diagnostics Samples
Please ship us the blood sample within 48 hours of collection.
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:
- 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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