Test Catalog

Test ID: AUTOP    
Autoinflammatory Primary Immunodeficiency (PID) Gene Panel

Useful For Suggests clinical disorders or settings where the test may be helpful

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of autoinflammatory syndromes and related disorders

 

Establishing a diagnosis of autoinflammatory disease, and in some cases guiding management and allowing for surveillance of disease features

 

Identification of pathogenic variants within genes known to be associated with autoinflammatory disorders allowing for predictive testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes next-generation sequencing and supplemental Sanger sequencing to evaluate for the genes listed on the panel.

Highlights

This test uses next-generation sequencing to test for variants in the CARD14, IL10RA, IL10RB, IL1RN, IL36RN, ISG15, LPIN2, MEFV, MVK, NLRP12, NLRP3 (CIAS1), NOD2 (CARD15), PLCG2, PSMB8, PSTPIP1 (CD2BP1), RBCK1 (HOIL1), SH3BP2, and TNFRSF1A genes.

 

Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesNo
CRYOBCryopreserve for Biochem StudiesNoNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For skin biopsy or cultured fibroblast specimens, fibroblast culture and cryopreservation testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Autoinflammatory PID Gene Panel

Aliases Lists additional common names for a test, as an aid in searching

Autoinflammation
Autoinflammatory bone disease
Blau syndrome
CARD14
Chronic atypical neutrophilic dermatitis with lipodystrophy (CANDLE)
Chronic infantile neurological cutaneous and articular syndrome (CINCA)
Deficiency of interleukin 1 receptor antagonist (DIRA)
Deficiency of interleukin 36 receptor antagonist (DITRA)
Familial cold autoinflammatory syndrome (FCAS1/FCAS2)
Familial Mediterranean fever (FMF)
Hyperimmunoglobulinemia D syndrome (HIDS)
IL10RA
IL10RB
IL1RN
IL36RN
Inflammatory bowel disease
ISG15
Japanese autoinflammatory syndrome with lipodystrophy (JASL)
JMP (joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy)
LPIN2
MEFV
Majeed syndrome
Mevalonic aciduria
Muckle-Wells syndrome
MVK
Neonatal onset multisystem inflammatory disease (NOMID)
NLRP12
NLRP3 (CIAS1)
NOD2 (CARD15)
Pediatric granulomatous arthritis
Pityriasis rubra pillaris
PLCG2
PLC-gamma2 associated antibody deficiency and immune dysregulation (PLAID)
Proteasome-associated autoinflammatory syndrome (PRASS)
PSMB8
PSTPIP1 (CD2BP1)
Psoriasis 2
Pustular psoriasis
Pyogenic sterile arthritis pyoderma gangrenosum acne (PAPA)
RBCK1 (HOIL1)
SH3BP2
TNFRSF1A
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)
Very early onset inflammatory bowel disease (VEOIBD)
Primary Immunodeficiency