Casandra Test Code IN08130Version 1 (DRAFT)
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel
Use
The Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel analyzes genes associated with SCID and CID, conditions marked by dysfunction of T-lymphocytes and B-lymphocytes, and sometimes natural killer cells. SCID often presents with severe, recurrent infections in children, whereas CID is generally less severe. This test allows for an efficient evaluation of potentially relevant genes through broad panel testing and can guide the diagnosis and management of patients with these immunodeficiencies.
Special Instructions
Not provided.
Limitations
The assay does not cover sequence changes in promoter regions, non-coding exons, or other non-coding areas unless explicitly stated. Certain variants such as structural rearrangements or complex sequences may not be detected. Variants in samples from patients with conditions like recent blood transfusion may not represent the true genomic makeup. Detailed limitations are available upon request and highlighted in the test report.
Methodology
Biomarkers
Mutation (139 genes)
ACDADAAK2ARPC1BATMB2MBCL10BCL11BBLMCARD11CARMIL2CCBE1CD247CD27CD3DCD3ECD3GCD40CD40LGCHD7CIITACORO1ACTC1CTPS1CXCR4DCXRDKC1DNMT3BDOCK8DOCK2DCLRE1CEPG5EXO1ERCC6ERCC6L2EXTL3FAT4FOXN1GINS1HELZ2ICOSICOSLGIKZF1IL2RGIL21IL7RITKJAK3KDM6BKMT2CLATLCKLIG1LIG4LRBAMAGT1MALT1MAP3K14MCPH1NBNNEBLNFS1NHP2NME1NME2NOP10ORAI1PARGPARNPDCD1PGRMC1PTPRCRAC2RAD50RAD51RAD51BREG1REG1AREG1BRELARFX5RFXANKRFXAPRHOHRINT1RNF168RNF43RP2RPA1RPL15RUVBL2SAMHD1SEC24ASENP6SEPSECSSGPL1SIRT5SLFN11SLC7A11SLX4SMARCAL1SMARCB1SOCS4SPINK5SPOPSPTAN1STIM1STK11STX11SYMPKSYNE1SYNE1TAP1TAP2TARDBPTBKBP1TERCTERTTFRCTNFAIP3TRAF3TREX1TRIM28TSHZ2TTC7AUBQLN1UKUNKLUSP54VCPWRAP53XPCYARS1YEATS4YWHAEZAP70ZBTB16ZBTB24ZNF341
Result Turnaround Time
Related Documents
For more information, please review the documents below
Other tests from different labs that may be relevant
Severe Combined Immunodeficiency (SCID) Gene Panel, Varies
Mayo Clinic Lab
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Eight-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E) (Full Gene Sequencing)
Labcorp
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLRE1C [Artemis]) (Full Gene Sequencing)
Labcorp
Combined Immunodeficiencies with Syndromic Features Panel
Prevention Genetics
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Three-gene Profile (IL2RG, ADA, IL7R) (Full Gene Sequencing)
Labcorp
Severe Combined Immunodeficiency (SCID): Three-gene Profile (IL7R, CD3D, CD3E) (Full Gene Sequencing)
Labcorp
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication
ARUP Laboratories
Severe Combined Immunodeficiency (SCID): Two-gene Profile (IL2RG, JAK3) (Full Gene Sequencing)
Labcorp
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG1, RAG2, DCLRE1C (Artemis) (Full Gene Sequencing)
Labcorp
Severe Combined Immunodeficiency (SCID): IL7R (Full Gene Sequencing)
Labcorp
New York Approved
Volume
Container