Test Id : IEICP
Inborn Errors of Immunity Comprehensive Gene Panel, Varies
Useful For
Suggests clinical disorders or settings where the test may be helpful
Providing a comprehensive genetic evaluation for patients with a personal history of an inborn error of immunity (IEI)
Establishing a diagnosis of an IEI associated with known causal genes
Identifying variants within genes known to be associated with inherited IEI, allowing for predictive testing of at-risk family members and/or determination of targeted management (anticipatory guidance, management changes, specific therapies)
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 383 genes associated with inborn errors of immunity: ACD, ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, ALPI, ANGPT1, ANKZF1, AP3B1, AP3D1, ARPC1B, ASAH1, ATM, ATP6AP1, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S6, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CCBE1, CD19, CD247, CD27, CD28, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD48, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CIB1, CIITA, CLCN7, CLPB, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1C, DDX58 (RIGI), DEF6, DGAT1, DKC1, DNAJC21, DNASE1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DUOX2, EFL1, ELANE, EPG5, ERBIN, ERCC6L2, EXTL3, F12, FADD, FAS, FASLG, FAT4, FCHO1, FERMT1, FERMT3, FOXN1, FOXP3, G6PC (G6PC1), G6PC3, G6PD, GATA2, GFI1, GINS1, GLA, HAVCR2, HAX1, HELLS, HMOX1, HPS1, HPS3, HPS4, HPS6, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKBKG, IKZF1, IKZF3, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, IRAK4, IRF2BP2, IRF3, IRF7, IRF8, IRF9, ISG15, ITCH, ITGB2, ITK, ITPKB, JAGN1, JAK1, JAK3, KDM6A, KMT2A, KMT2D, KNG1, LACC1, LAT, LCK, LCP2, LIG1, LIG4, LPIN2, LRBA, LSM11, LYN, LYST, MAGT1, MALT1, MAP3K14, MASP2, MCM10, MEFV, MOGS, MRTFA, MS4A1, MSN, MTHFD1, MVK, MYD88, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NCSTN, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NSMCE3, OAS1, ORAI1, OSTM1, OTULIN, PARN, PAX1, PEPD, PGM3, PIK3CD, PIK3R1, PLCG2, PLG, PMM2, PNP, POLA1, POLD1, POLE, POLE2, POLR3A, POLR3C, POMP, PRF1, PRKCD, PRKDC, PSENEN, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, RBCK1, RBM8A, REL, RELA, RELB, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RNU4ATAC, RNU7-1, RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SBDS, SEC61A1, SEMA3E, SERPING1, SH2D1A, SH3BP2, SH3KBP1, SKIV2L (SKIC2), SLC29A3, SLC35C1, SLC37A4, SLC39A7, SLC46A1, SLC7A7, SMARCAL1, SMARCD2, SNX10, SP110, SPINK5, SPPL2A, SRP54, STAT1, STAT2, STAT3, STAT5B, STIM1, STING1, STK4, STX11, STXBP2, SYK, TAP1, TAP2, TAPBP, TAZ (TAFAZZIN), TBX1, TCF3, TCIRG1, TCN2, TERC, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, TINF2, TIRAP, TLR3, TLR7, TLR8, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TNFSF13, TOP2B, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37 (SKIC3), TTC7A, TYK2, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24, ZNF341, and ZNFX1. See Targeted Genes and Methodology Details for Inborn Errors of Immunity Comprehensive Gene Panel and Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for primary (genetic) immune disorders, also known as primary immunodeficiency disorders or as inborn errors of immunity.
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 Id | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| CULAF | Amniotic Fluid Culture/Genetic Test | Yes | No |
| _STR1 | Comp Analysis using STR (Bill only) | No, (Bill only) | No |
| _STR2 | Add'l comp analysis w/STR (Bill Only) | No, (Bill only) | No |
| CULFB | Fibroblast Culture for Genetic Test | Yes | No |
| MATCC | Maternal Cell Contamination, B | Yes | No |
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Skin biopsy: For skin biopsy or cultured fibroblast specimens, fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified.
Cord blood: For cord blood specimens that have an accompanying maternal blood specimen, maternal cell contamination studies will be performed at an additional charge.
Method Name
A short description of the method used to perform the test
Sequence Capture and Amplicon-Based Next-Generation Sequencing (NGS) followed by Droplet Digital Polymerase Chain Reaction (ddPCR)/Quantitative Real-Time Polymerase Chain Reaction (qPCR) and Sanger Sequencing as needed
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
NextGen Sequencing Test
Primary immune disorders
Primary immunodeficiency
Inborn errors of immunity (IEI)
Combined immunodeficiency (CID)
Severe combined immunodeficiency (SCID)
Leaky SCID
Atypical SCID
Adenosine deaminase (ADA) deficiency
AD-HIES STAT3 deficiency (Job syndrome)
AK2 defect
Arp2/3-mediated filament branching defect
Ataxia-telangiectasia
Autoimmune lymphoproliferative syndrome with autoimmune cytopenias
Bare lymphocyte syndrome
Bare lymphocyte syndrome, complementation group A
Barth Syndrome (3-Methylglutaconic aciduria type II)
BCL10 deficiency
BCL11B deficiency
CARD11 deficiency
CARD11 GOF
Cartilage hair hypoplasia (CHH)
CD122 deficiency
CD247 deficiency
CD25 deficiency
CD3 delta deficiency
CD3 epsilon deficiency
CD3 zeta deficiency
CD3 lambda deficiency
CD40 deficiency
CD40 ligand (CD154) deficiency
CD40L deficiency
CD45 deficiency
CD70 deficiency
CD8 deficiency
Cernunnos/XLF deficiency
CHARGE syndrome
Coronin-1A deficiency
c-Rel deficiency
CTLA4 haploinsufficiency (ALPS-V)
DCLRE1C (Artemis) deficiency
DNA ligase IV deficiency
DOCK2 deficiency
DOCK8 deficiency
Ectodermodysplasia with immunodeficiency (EDA-ID) due to IKBA GOF mutation
EDA-ID due to NEMO/IKBKG deficiency (ectodermal dysplasia, immune deficiency)
EPG5 deficiency (Vici syndrome)
Epidermodysplasia verruciformis
ERCC6L2 (Hebo deficiency)
FCHO1 deficiency
FOXN1 haploinsufficiency
GINS1 deficiency
Hepatic veno-occlusive disease with immunodeficiency (VODI)
HLA class I deficiency
HOIL1 deficiency
HOIP deficiency
Hyper-IgE syndrome
Hyper-IgM syndrome
ICOS deficiency
ICOSL deficiency
IKAROS deficiency
IKBKB deficiency
IL-21 deficiency
IL-21R deficiency
IL2-inducible T-cell kinase deficiency
IL7Ralpha deficiency
Immunodeficiency
Immunodeficiency with centromeric instability and facial anomalies (ICF types 1, 2, 3, 4)
Immunodeficiency with multiple intestinal atresias
Immunodeficiency, X-linked with magnesium defect, Epstein-Barr virus infection and neoplasia
Immunoskeletal dysplasia with neurodevelopmental abnormalities (EXTL3 deficiency)
ITK deficiency
JAK3 deficiency
Kabuki syndrome 1
Kabuki syndrome 2
KMT2A deficiency (Wiedemann-Steiner syndrome)
LAT deficiency
LCK deficiency
LIG4 syndrome
Ligase I deficiency
LRBA deficiency
lymphoproliferative syndrome 1
MALT1 deficiency
Methylene-tetrahydrofolate dehydrogenase 1 (MTHFD1) deficiency
MHC class I deficiency
MHC class II deficiency
MHC class II deficiency group B
MHC class II deficiency group C
MHC class II deficiency group D
Moesin deficiency
MOPD1 deficiency (Roifman syndrome)
MTHFD1 deficiency
MYSM1 deficiency
Nijmegen breakage syndrome
NIK deficiency
NK-cell deficiency
NSMCE3 deficiency
Omenn syndrome
ORAI-1 deficiency
OX40 deficiency
PGM3 deficiency
POLE1 (Polymerase epsilon subunit 1) deficiency (FILS syndrome)
POLE2 (Polymerase epsilon subunit 2) deficiency
Polymerase delta deficiency
Purine nucleoside phosphorylase (PNP) deficiency
Rac2 deficiency
RAG deficiency
RASGRP1 deficiency
RelA haploinsufficiency
RelB deficiency
Reticular dysgenesis
RHOH deficiency
RNF168 deficiency (Radiosensitivity, Immune Deficiency, Dysmorphic features, Learning difficulties [RIDDLE] syndrome)
SAP deficiency (XLP1)
Schimke immuno-osseous dysplasia
SEC61A1 deficiency
Severe combined immunodeficiency
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
STAT3 GOF mutation
STAT5b deficiency
STIM1 deficiency
STK4 deficiency
Tapasin deficiency
T-B+ severe combined immunodeficiency due to gamma chain deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-B+NK severe combined immunodeficiency
TBX1 deficiency
TCR alpha deficiency
TFRC deficiency
Tricho-Hepato-Enteric Syndrome (THES)
Winged helix nude FOXN1 deficiency
WIP deficiency
Wiskott-Aldrich syndrome
X-linked magnesium EBV and neoplasia (XMEN)
X-linked neutropenia/myelodysplasia
ZAP-70 deficiency
Gamma c deficiency (common gamma chain SCID, CD132 deficiency)
Chronic granulomatous disease (CGD)
Leukocyte adhesion deficiency
Leukocyte adhesion deficiency type 1 (LAD1)
Leukocyte adhesion deficiency type 2 (LAD2)
Leukocyte adhesion deficiency type 3 (LAD3)
Neutropenia with combined immune deficiency due to MKL1 deficiency
Neutrophil-specific granule deficiency
Papillon-Lefevre syndrome
Pulmonary alveolar proteinosis
SLC7A7 deficiency
SMARCD2 deficiency
Specific granule deficiency
Surfactant metabolism dysfunction, pulmonary, 4
Surfactant metabolism dysfunction, pulmonary, 5
WDR1 deficiency
X-linked chronic granulomatous disease (CGD)
Adenosine deaminase deficiency
B-cell expansion with nuclear factor kappa B and T-cell anergy
Bare lymphocyte syndrome type II
Cartilage-hair hypoplasia
CD8 deficiency, familial
Combined cellular and humoral immune defects with granulomas
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
DiGeorge syndrome
Gastrointestinal defects and immunodeficiency syndrome 1
Hyper-IgE recurrent infection syndrome 2, autosomal recessive
Immunodeficiency 10
Immunodeficiency 11A
Immunodeficiency 11B with atopic dermatitis
Immunodeficiency 17
Immunodeficiency 18
Immunodeficiency 19
Immunodeficiency 25
Immunodeficiency 26 with or without neurologic abnormalities
Immunodeficiency 40
Immunodeficiency 41 with lymphoproliferation and autoimmunity
Immunodeficiency 48
Immunodeficiency 49
Immunodeficiency 52
Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis
Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia
Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia
Immunodeficiency 8
Immunodeficiency 81
Immunodeficiency 9
Immunodeficiency, common variable, 13
Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities
Neutropenia, severe congenital, X-linked
Otofaciocervical syndrome 2, with T-cell deficiency
POLE2 deficiency
Purine nucleoside phosphorylase deficiency
Severe combined immunodeficiency Athabaskan type
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive
Severe combined immunodeficiency due to NHEJ1 deficiency
Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative
Skeletal dysplasia-T-cell immunodeficiency developmental delay syndrome
Stormorken syndrome
T-cell immunodeficiency with thymic aplasia
T-cell immunodeficiency, congenital alopecia, and nail dystrophy
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
Wiskott Aldrich syndrome
X-Linked combined immunodeficiency
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Skin biopsy: For skin biopsy or cultured fibroblast specimens, fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified.
Cord blood: For cord blood specimens that have an accompanying maternal blood specimen, maternal cell contamination studies will be performed at an additional charge.
Specimen Type
Describes the specimen type validated for testing
Varies
Ordering Guidance
Patients who have had a previous bone marrow transplant from an allogenic donor should not have testing performed on blood, bone marrow, or saliva because any results generated will reflect the genome of the donor rather than the recipient. Testing on patients who have an active hematologic malignancy or hematologic disorder with clonal proliferation may identify both somatic mutations and germline variants, which may result in test failure or necessitate follow-up testing to determine whether the detected variant is germline or somatic. For these patients, testing a skin biopsy or cultured fibroblasts is recommended. For instructions for testing patients who have received a bone marrow transplant or have an active hematologic disorder, call 800-533-1710. For more information see Cautions.
When the patient has a more specific phenotype, the following smaller, more targeted disease and phenotype-specific panels, which also include supplemental analysis for specific challenging genomic regions, are recommended instead of this comprehensive panel. See more targeted panels:
-AECDP / Angioedema and Complement Disorders Gene Panel, Varies
-AHUGP / Atypical Hemolytic Uremic Syndrome (aHUS)/Thrombotic Microangiopathy (TMA) /Complement 3 Glomerulopathy (C3G) Gene Panel, Varies
-ALPSG / Autoimmune Lymphoproliferative Syndrome (ALPS) Gene Panel, Varies
-AUTOG / Autoinflammatory Disorders Gene Panel, Varies
-BCELL / B-Cell and Antibody Deficiency Gene Panel, Varies
-BMFGP / Inherited Bone Marrow Failure Gene Panel, Varies
-BTKSG / Bruton Tyrosine Kinase BTK, Full Gene Analysis, Varies
-COMID / Combined Humoral and Cell-Mediated Immunodeficiency Gene Panel, Varies
-EBLPD / Epstein Barr Virus (EBV) Susceptibility and Lymphoproliferative Disorders Gene Panel, Varies
-EOIBD / Early Onset Monogenic Inflammatory Bowel Disease (IBD) Gene Panel, Varies
-GNANG / Hereditary Angioedema Focused Gene Panel, Next-Generation Sequencing, Varies
-GNHTC / Hereditary Thrombocytopenia Gene Panel, Next-Generation Sequencing, Varies
-HIESG / Hyper-IgE Syndrome Gene Panel, Varies
-HLHGP / Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies
-IMMAU / Inborn Errors of Immunity with Immune Dysregulation and Autoimmunity Gene Panel, Varies
-PHCGD / Phagocytic Disorders and Chronic Granulomatous Disease Gene Panel, Varies
-SCCNP / Severe Congenital and Cyclic Neutropenia Gene Panel, Varies
-SCIDP / Severe Combined Immunodeficiency (SCID) Gene Panel, Varies
-VIRID / Viral Susceptibility, Defects in Intrinsic and Innate Immunity, Gene Panel, Varies
Phenocopies of inborn errors of immunity exist, some of which are caused by somatic mutations (eg, autoimmune lymphoproliferative syndrome is caused by somatic mutation in TNFRSF6), and some of which are caused by autoantibodies (eg, chronic mucocutaneous candidiasis caused by neutralizing autoantibodies against IL-17 or IL-22 cytokines). This test is not designed to detect somatic mutations. If a phenocopy is suspected, contact the laboratory for assistance in test selection.
Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies. To modify this panel via CGPH, use the Inborn Errors of Immunity/Bone Marrow Failure/Telomeropathy/Pulmonary Fibrosis/Very Early Onset IBD/Pancreatitis disease state for step 1 on the Custom Gene Ordering Tool.
Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.
Additional Testing Requirements
For cord blood specimens: Maternal cell contamination (MCC) studies are available. Order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on both the cord blood and maternal specimens under separate order numbers. Cord blood testing will proceed without MCC studies, but results may be compromised if MCC is present.
ORDER QUESTIONS AND ANSWERS
| Question ID | Description | Answers |
|---|---|---|
| MG146 | Is this Bone Marrow |
Yes No |
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Patient Preparation: A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing. For information about testing patients who have received a hematopoietic stem cell transplant, call 800-533-1710.
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Green top (sodium heparin)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Skin biopsy
Supplies: Fibroblast Biopsy Transport Media (T115)
Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin.
Specimen Volume: 4-mm Punch
Specimen Stability Information: Ambient (preferred) <24 hours/Refrigerated <24 hours
Additional Information:
1. Specimens are preferred to be received within 24 hours of collection. Culture and extraction will be attempted for specimens received after 24 hours and will be evaluated to determine if testing may proceed.
2. A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical and Molecular Testing, Tissue. An additional 3 to 4 weeks are required to culture fibroblasts before genetic testing can occur.
Specimen Type: Cultured fibroblasts
Source: Skin
Container/Tube: T-25 flask
Specimen Volume: 2 Flasks
Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.
Specimen Stability Information: Ambient (preferred) <24 hours/Refrigerated <24 hours
Additional Information:
1. Specimens are preferred to be received within 24 hours of collection. Culture and extraction will be attempted for specimens received after 24 hours and will be evaluated to determine if testing may proceed.
2. A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical and Molecular Testing, Tissue. An additional 3 to 4 weeks are required to culture fibroblasts before genetic testing can occur.
Specimen Type: Extracted DNA
Container/Tube:
Preferred: Screw Cap Micro Tube, 2 mL with skirted conical base
Acceptable: Matrix tube, 1 mL
Collection Instructions:
1. The preferred volume is at least 100 mcL at a concentration of 75 ng/mcL.
2. Include concentration and volume on tube.
Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated
Additional Information: DNA must be extracted in a CLIA-certified laboratory, or equivalent, and must be extracted from a specimen type listed as acceptable for this test (including applicable anticoagulants). Our laboratory has experience with Chemagic, Puregene, Autopure, MagnaPure, and EZ1 extraction platforms and cannot guarantee that all extraction methods are compatible with this test. If testing fails, one repeat will be attempted, and if unsuccessful, the test will be reported as failed and a charge will be applied. If applicable, specific gene regions that were unable to be interrogated due to DNA quality will be noted in the report.
Specimen Type: Bone marrow aspirate
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 2 mL
Collection Instructions:
1. Invert several times to mix bone marrow.
2. Label specimen as bone marrow.
3. Send bone marrow specimen in original tube. Do not aliquot.
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
Specimen Type: Cord blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Green top (sodium heparin)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send cord blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 4 days/Frozen 4 days
Additional Information:
1. Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
2. To ensure minimum volume and concentration of DNA is met, the requested volume must be submitted. Testing may be canceled if DNA requirements are inadequate.
3. While a properly collected cord blood sample may not be at risk for maternal cell contamination, unanticipated complications may occur during collection. Therefore, maternal cell contamination studies are recommended to ensure the test results reflect that of the patient tested and are available at an additional charge. Order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen
Specimen Type: Blood spot
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Container/Tube:
Preferred: Collection card (Whatman Protein Saver 903 Paper)
Acceptable: PerkinElmer 226 filter paper or blood spot collection card
Specimen Volume: 2 to 5 Blood spots
Collection Instructions:
1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect a Dried Blood Spot Sample.
2. Let blood dry on the filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry.
Specimen Stability Information: Ambient (preferred)/Refrigerated
Additional Information:
1. Blood spot specimens are acceptable but not recommended. Multiple extractions will be required to obtain sufficient yield for supplemental analysis, and there is significant risk for test failure due to insufficient DNA.
2. Due to lower concentration of DNA yielded from blood spot, it is possible that additional specimen may be required to complete testing.
3. For collection instructions, see Blood Spot Collection Instructions.
4. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777).
5. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800).
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Swab Collection Kit (T786)
Specimen Volume: 2 Swabs, use 2 kits for collection
Collection Instructions: Collect and send specimen per kit instructions.
Specimen Stability Information: Ambient (preferred) 30 days, Refrigerated 30 days
Additional Information: Saliva specimens are acceptable but not recommended. Due to lower quantity/quality of DNA yielded from saliva, some aspects of the test may not perform as well as DNA extracted from a whole blood sample. When applicable, specific gene regions that were unable to be interrogated will be noted in the report. Alternatively, additional specimen may be required to complete testing.
Special Instructions
Library of PDFs including pertinent information and forms related to the test
- Informed Consent for Genetic Testing
- Blood Spot Collection Card-Spanish Instructions
- Blood Spot Collection Card-Chinese Instructions
- Informed Consent for Genetic Testing (Spanish)
- Blood Spot Collection Instructions
- Inborn Errors of Immunity, Autoimmunity, and Autoinflammatory Disease Patient Information
- Targeted Genes and Methodology Details for Inborn Errors of Immunity Comprehensive Gene Panel
Forms
1. New York Clients-Informed consent is required.
Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing (Spanish) (T826)
2. Inborn Errors of Immunity, Autoimmunity and Autoinflammatory Disease Patient Information
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
See Specimen Required
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Varies | Varies | ||
Useful For
Suggests clinical disorders or settings where the test may be helpful
Providing a comprehensive genetic evaluation for patients with a personal history of an inborn error of immunity (IEI)
Establishing a diagnosis of an IEI associated with known causal genes
Identifying variants within genes known to be associated with inherited IEI, allowing for predictive testing of at-risk family members and/or determination of targeted management (anticipatory guidance, management changes, specific therapies)
Genetics Test Information
Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 383 genes associated with inborn errors of immunity: ACD, ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, ALPI, ANGPT1, ANKZF1, AP3B1, AP3D1, ARPC1B, ASAH1, ATM, ATP6AP1, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S6, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CCBE1, CD19, CD247, CD27, CD28, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD48, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CIB1, CIITA, CLCN7, CLPB, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1C, DDX58 (RIGI), DEF6, DGAT1, DKC1, DNAJC21, DNASE1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DUOX2, EFL1, ELANE, EPG5, ERBIN, ERCC6L2, EXTL3, F12, FADD, FAS, FASLG, FAT4, FCHO1, FERMT1, FERMT3, FOXN1, FOXP3, G6PC (G6PC1), G6PC3, G6PD, GATA2, GFI1, GINS1, GLA, HAVCR2, HAX1, HELLS, HMOX1, HPS1, HPS3, HPS4, HPS6, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKBKG, IKZF1, IKZF3, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, IRAK4, IRF2BP2, IRF3, IRF7, IRF8, IRF9, ISG15, ITCH, ITGB2, ITK, ITPKB, JAGN1, JAK1, JAK3, KDM6A, KMT2A, KMT2D, KNG1, LACC1, LAT, LCK, LCP2, LIG1, LIG4, LPIN2, LRBA, LSM11, LYN, LYST, MAGT1, MALT1, MAP3K14, MASP2, MCM10, MEFV, MOGS, MRTFA, MS4A1, MSN, MTHFD1, MVK, MYD88, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NCSTN, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NSMCE3, OAS1, ORAI1, OSTM1, OTULIN, PARN, PAX1, PEPD, PGM3, PIK3CD, PIK3R1, PLCG2, PLG, PMM2, PNP, POLA1, POLD1, POLE, POLE2, POLR3A, POLR3C, POMP, PRF1, PRKCD, PRKDC, PSENEN, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, RBCK1, RBM8A, REL, RELA, RELB, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RNU4ATAC, RNU7-1, RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SBDS, SEC61A1, SEMA3E, SERPING1, SH2D1A, SH3BP2, SH3KBP1, SKIV2L (SKIC2), SLC29A3, SLC35C1, SLC37A4, SLC39A7, SLC46A1, SLC7A7, SMARCAL1, SMARCD2, SNX10, SP110, SPINK5, SPPL2A, SRP54, STAT1, STAT2, STAT3, STAT5B, STIM1, STING1, STK4, STX11, STXBP2, SYK, TAP1, TAP2, TAPBP, TAZ (TAFAZZIN), TBX1, TCF3, TCIRG1, TCN2, TERC, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, TINF2, TIRAP, TLR3, TLR7, TLR8, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TNFSF13, TOP2B, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37 (SKIC3), TTC7A, TYK2, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24, ZNF341, and ZNFX1. See Targeted Genes and Methodology Details for Inborn Errors of Immunity Comprehensive Gene Panel and Method Description for additional details.
Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for primary (genetic) immune disorders, also known as primary immunodeficiency disorders or as inborn errors of immunity.
Testing Algorithm
Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
Skin biopsy: For skin biopsy or cultured fibroblast specimens, fibroblast culture will be performed at an additional charge. If viable cells are not obtained, the client will be notified.
Cord blood: For cord blood specimens that have an accompanying maternal blood specimen, maternal cell contamination studies will be performed at an additional charge.
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Primary (genetic) immune disorders, also known as primary immunodeficiency disorders (PIDs) or inborn errors of immunity (IEIs), include genetic disorders in which some aspects of the immune system are absent or functionally defective. IEIs often increase the risk or the severity of infections, but they can also manifest with dysregulation, characterized by allergy, autoimmunity, autoinflammation, or malignancy in addition to infections. In some cases, immune dysregulation may be the main feature of the disease. There are now approximately 500 genetically defined IEIs.
Currently IEIs are most frequently classified using the system proposed by the International Union of Immunological Societies Expert Committee, which includes 10 major groups based on phenotypes. However, there are significant overlaps in clinical presentation and laboratory findings among these groups of IEIs. This gene panel includes genes from all 10 groups. The comprehensive panel approach is recommended when the phenotype cannot be clearly assigned to one of the more specific gene panels. While exome or genome sequencing may be considered, a subset of genes remain technically challenging with short-read next-generation sequencing chemistry. The comprehensive panel focuses on genes known to be important for immunodeficiency, along with immune dysregulation, and includes supplemental analyses to provide a more complete test for the interrogated genes.
Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Interpretation
Provides information to assist in interpretation of the test results
All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(1) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Clinical Correlations:
Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.
If testing was performed because of a clinically significant family history, it is often useful to first test an affected family member. Detection of a reportable variant in an affected family member would allow for more informative testing of at-risk individuals.
To discuss the availability of additional testing options or for assistance in the interpretation of these results, contact Mayo Clinic Laboratories genetic counselors at 800-533-1710.
Technical Limitations:
Next-generation sequencing may not detect all types of genomic variants. In rare cases, false-negative or false-positive results may occur. The depth of coverage may be variable for some target regions; assay performance below the minimum acceptable criteria or for failed regions will be noted. Given these limitations, negative results do not rule out the diagnosis of a genetic disorder. If a specific clinical disorder is suspected, evaluation by alternative methods can be considered.
There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. Confirmation of select reportable variants will be performed by alternate methodologies based on internal laboratory criteria.
This test is validated to detect 95% of deletions up to 75 base pairs (bp) and insertions up to 47 bp. Deletions-insertions (delins) of 40 or more bp, including mobile element insertions, may be less reliably detected than smaller delins.
Deletion/Duplication Analysis:
This analysis targets single and multi-exon deletions/duplications; however, in some instances single exon resolution cannot be achieved due to isolated reduction in sequence coverage or inherent genomic complexity. Balanced structural rearrangements (such as translocations and inversions) may not be detected.
This test is not designed to detect low levels of mosaicism or to differentiate between somatic mutations and germline variants. If there is a possibility that any detected variant is somatic, additional testing may be necessary to clarify the significance of results.
Genes may be added or removed based on updated clinical relevance. For the most up to date list of genes included in this test and for detailed information regarding gene specific performance and technical limitations, see Method Description or contact a laboratory genetic counselor.
If the patient has had an allogeneic hematopoietic stem cell transplant or a recent non-leukocyte reduced blood transfusion, results of tests performed on blood, bone marrow, or saliva specimens may be clinically inaccurate due to the presence of donor DNA. Test orders for blood, bone marrow, or saliva will be canceled by the laboratory if there is a history of an allogeneic hematopoietic stem cell transplant. Similarly, blood, bone marrow, and saliva results may be impacted by presence of active hematologic malignancy or hematologic disorder with clonal proliferation. Call Mayo Clinic Laboratories for instructions for testing a skin biopsy or fibroblast culture for patients who have received a bone marrow transplant or have an active hematologic disorder.
Reclassification of Variants:
Currently, it is not standard practice for the laboratory to systematically review previously classified variants on a regular basis. The laboratory encourages healthcare professionals to contact the laboratory at any time to learn how the classification of a particular variant may have changed over time. Due to broadening genetic knowledge, it is possible that the laboratory may discover new information of relevance to the patient. Should that occur, the laboratory may issue an amended report.
Variant Evaluation:
Evaluation and categorization of variants are performed using published American College of Medical Genetics and Genomics and the Association for Molecular Pathology recommendations as a guideline,(1) Other gene-specific guidelines may also be considered. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance. Variants classified as benign or likely benign are not reported.
Multiple in silico evaluation tools may be used to assist in the interpretation of these results. The accuracy of predictions made by in silico evaluation tools is highly dependent upon the data available for a given gene, and periodic updates to these tools may cause predictions to change over time. Results from in silico evaluation tools should be interpreted with caution and professional clinical judgment.
Rarely, incidental or secondary findings may implicate another predisposition or presence of active disease. These findings will be carefully reviewed to determine whether they will be reported.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424
2. Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2022 Update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022;42(7):1473-1507
3. Bousfiha A, Moundir A, Tangye SG, et al. The 2022 update of IUIS phenotypical classification for human inborn errors of immunity. J Clin Immunol. 2022;42(7):1508-1520. doi:10.1007/s10875-022-01352-z
4. Staels F, Collignon T, Betrains A, et al. Monogenic adult-onset inborn errors of immunity. Front Immunol. 2021;12:753978
5. Similuk MN, Yan J, Ghosh R, et al. Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations. J Allergy Clin Immunol. 2022;150(4):947-954
Method Description
Describes how the test is performed and provides a method-specific reference
Next-generation sequencing (NGS) and/or Sanger sequencing is performed to test for the presence of variants in coding regions and intron/exon boundaries of the genes analyzed, as well as some other regions that have known disease-causing variants. The human genome reference GRCh37/hg19 build was used for sequence read alignment. At least 99% of the bases are covered at a read depth over 30X. Sensitivity is estimated at above 99% for single nucleotide variants, above 94% for deletions/insertions (delins) less than 40 base pairs (bp), above 95% for deletions up to 75 bp and insertions up to 47 bp. NGS and/or a polymerase chain reaction (PCR)-based quantitative method is performed to test for the presence of deletions and duplications in the genes analyzed.
There may be regions of genes that cannot be effectively evaluated by sequencing or deletion and duplication analysis as a result of technical limitations of the assay, including regions of homology, high guanine-cytosine (GC) content, and repetitive sequences. See Targeted Genes and Methodology Details for Inborn Errors of Immunity Comprehensive Gene Panel for details regarding the targeted genes analyzed for each test and specific gene regions not routinely covered.(Unpublished Mayo method)
Supplemental PCR-based methods are used to detect a large deletion in IKBKG and an inversion in UNC13D. Supplemental droplet digital PCR methods are used to detect deletions and duplications in IGHM, RPS17, C1R, and to detect the c.75_76delGT, p.Tyr26fs*26 (delta GT) disease-causing variant in NCF1.
Genes analyzed: ACD, ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, ALPI, ANGPT1, ANKZF1, AP3B1, AP3D1, ARPC1B, ASAH1, ATM, ATP6AP1, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S6, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CCBE1, CD19, CD247, CD27, CD28, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD48, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDC42, CDCA7, CEBPE, CFB, CFD, CFH, CFI, CFP, CFTR, CHD7, CIB1, CIITA, CLCN7, CLPB, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1C, DDX58 (RIGI), DEF6, DGAT1, DKC1, DNAJC21, DNASE1, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DUOX2, EFL1, ELANE, EPG5, ERBIN, ERCC6L2, EXTL3, F12, FADD, FAS, FASLG, FAT4, FCHO1, FERMT1, FERMT3, FOXN1, FOXP3, G6PC (G6PC1), G6PC3, G6PD, GATA2, GFI1, GINS1, GLA, HAVCR2, HAX1, HELLS, HMOX1, HPS1, HPS3, HPS4, HPS6, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGLL1, IKBKB, IKBKG, IKZF1, IKZF3, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7R, IRAK4, IRF2BP2, IRF3, IRF7, IRF8, IRF9, ISG15, ITCH, ITGB2, ITK, ITPKB, JAGN1, JAK1, JAK3, KDM6A, KMT2A, KMT2D, KNG1, LACC1, LAT, LCK, LCP2, LIG1, LIG4, LPIN2, LRBA, LSM11, LYN, LYST, MAGT1, MALT1, MAP3K14, MASP2, MCM10, MEFV, MOGS, MRTFA, MS4A1, MSN, MTHFD1, MVK, MYD88, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NCSTN, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NSMCE3, OAS1, ORAI1, OSTM1, OTULIN, PARN, PAX1, PEPD, PGM3, PIK3CD, PIK3R1, PLCG2, PLG, PMM2, PNP, POLA1, POLD1, POLE, POLE2, POLR3A, POLR3C, POMP, PRF1, PRKCD, PRKDC, PSENEN, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, RBCK1, RBM8A, REL, RELA, RELB, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP (NME1), RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RNU4ATAC, RNU7-1, RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SBDS, SEC61A1, SEMA3E, SERPING1, SH2D1A, SH3BP2, SH3KBP1, SKIV2L (SKIC2), SLC29A3, SLC35C1, SLC37A4, SLC39A7, SLC46A1, SLC7A7, SMARCAL1, SMARCD2, SNX10, SP110, SPINK5, SPPL2A, SRP54, STAT1, STAT2, STAT3, STAT5B, STIM1, STING1, STK4, STX11, STXBP2, SYK, TAP1, TAP2, TAPBP, TAZ (TAFAZZIN), TBX1, TCF3, TCIRG1, TCN2, TERC, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, TINF2, TIRAP, TLR3, TLR7, TLR8, TMC6, TMC8, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF9, TNFSF11, TNFSF12, TNFSF13, TOP2B, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24, ZNF341, and ZNFX1
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Varies
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.
- Authorized users can sign in to Test Prices for detailed fee information.
- Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
- Prospective clients should contact their account representative. For assistance, contact Customer Service.
Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.
CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
81443
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| IEICP | Inborn Errors of Immunity GenePanel | In Process |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 621520 | Test Description | 62364-5 |
| 621521 | Specimen | 31208-2 |
| 621522 | Source | 31208-2 |
| 621523 | Result Summary | 50397-9 |
| 621524 | Result | 82939-0 |
| 621525 | Interpretation | 69047-9 |
| 621526 | Additional Results | 82939-0 |
| 621527 | Resources | 99622-3 |
| 621528 | Additional Information | 48767-8 |
| 621529 | Method | 85069-3 |
| 621530 | Genes Analyzed | 82939-0 |
| 621531 | Disclaimer | 62364-5 |
| 621532 | Released By | 18771-6 |
| MG146 | Is this Bone Marrow | 31208-2 |