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Test ID SCDGP Severe Combined Immunodeficiency Panel (63 genes), Next-Generation Sequencing, Varies


Advisory Information


Targeted testing for familial variants (also called site-specific or known mutation testing) is available for the genes on this panel. See:

-KVAR1 / Known Variant Analysis-1 Variant, Varies

-KVAR2 / Known Variant Analysis-2 Variants, Varies

-KVAR3 / Known Variant Analysis-3+ Variants, Varies

 

Call 800-533-1710 to confirm the appropriate test for targeted testing.



Necessary Information


1. Primary Immunodeficiencies Patient Information (T791) is required. See Special Instructions. Testing may proceed without the Patient Information however it aids in providing a more thorough interpretation. Ordering physicians are strongly encouraged to fill out the form.

2. Include physician name and phone number with specimen.



Specimen Required


Submit only 1 of the following specimens:

 

Preferred:

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated 14 days

 

Specimen Type: Blood spot

Supplies: Card-Blood Spot Collection Filter Paper (T493)

Container/Tube:

Preferred: Collection card (Whatman Protein Saver 903 Paper)

Acceptable: Whatman FTA Classic paper, Ahlstrom 226 filter paper, or Blood Spot Collection Card

Specimen Volume: 2 to 5 blood spots on collection card

Collection Instructions:

1. An alternative blood collection option for a patient <1 year of age is finger stick.

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 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

 

Specimen Type: Peripheral blood mononuclear cells (PBMCs)

Container/Tube: Cell pellet

Collection Instructions: Send as a suspension in freezing medium or cell pellet frozen on dry ice.

Specimen Stability Information: Frozen

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-75 or T-25 flask

Specimen Volume: 1 Full T-75 or 2 full T-25 flasks

Additional Information: Indicate the tests to be performed on the fibroblast culture cells. A separate culture charge will be assessed under FIBR / Fibroblast Culture. An additional 4 weeks is required to culture fibroblasts before genetic testing can occur.

Specimen Stability Information: Ambient (preferred)/Refrigerated <24 hours

 

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. Tubes of culture media can be supplied upon request (Eagle's minimum essential medium with 1% penicillin and streptomycin).

Specimen Volume: 4-mm punch

Additional Information: A separate culture charge will be assessed under FIBR / Fibroblast Culture. An additional 4 weeks is required to culture fibroblasts before genetic testing can occur.

Specimen Stability Information: Refrigerated (preferred)/Ambient

 

Specimen Type: DNA

Container/Tube: 2 mL screw top tube

Specimen Volume: 100 mcL (microliters)

Collection Instructions:

1. The preferred volume is 100 mcL at a concentration of 250 ng/mcL

2. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred)/Ambient/Refrigerated


Forms

1. Primary Immunodeficiencies Patient Information (T791) is required. See Special Instructions.

2. 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 in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

Useful For

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of severe combined immunodeficiency (SCID), combined immunodeficiency (CID), T-cell lymphopenia/deficiency, bare lymphocyte syndrome (BLS), or Epstein-Barr virus-associated primary immunodeficiency disorder (PIDD)

 

Establishing a diagnosis and, in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved

 

Identifying pathogenic variants within genes known to be associated SCID, CID, T-cell lymphopenia/deficiency, BLS, or EBV-associated PIDD allowing for predictive testing of at-risk family members

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
FIBR Fibroblast Culture Yes No
CRYOB Cryopreserve for Biochem Studies No No

Testing Algorithm

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.

Method Name

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

Reporting Name

SCID PID Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

Whole blood: 1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Severe combined immunodeficiency (SCID) is characterized by the absence or dysfunction of T lymphocytes, which affects both cellular and humoral adaptive immunity resulting in a severe form of this inherited primary immunodeficiency disorder (PIDD) that may be life-threatening. In classic form, SCID presents in infancy with persistent respiratory and gastrointestinal infections, failure to thrive, or graft-versus-host disease (due to engraftment of maternal T cells). The absence of lymphoid tissue, immunoglobulins, and T lymphocytes may also be noted. Typically, patients will have less than 300 autologous CD3 T cells/mcL blood and will require immediate medical intervention.

 

Atypical or "leaky" SCID tends to present later (ie, over 12 months of age) with recurrent, severe, and prolonged viral infections, bronchiectasis, autoimmune manifestations including cytopenias, and failure to thrive. Patients may display partial or restricted antigen-specific antibody responses. Leaky SCID is also related to hypomorphic variants in genes normally associated with classic SCID, as indicated above.

 

Omenn syndrome, a form of leaky SCID that typically presents in infancy, is characterized by erythroderma, alopecia, hepatosplenomegaly, and lymphadenopathy. Laboratory findings may include elevated IgE, eosinophilia, and lymphocytosis. Omenn syndrome is due to genetic variants in at least 7 different genes that allow for partial activity, although disease severity is likely only partially attributable to genotype. While RAG1 and RAG2 hypomorphic variants are most often associated with leaky SCID or Omenn syndrome, patients may have variants affecting other genes/proteins, such as Artemis or Interleukin-7 receptor (IL-7R) alpha. There may be forms of leaky SCID with hypomorphic variants in these genes that do not have the associated Omenn syndrome phenotype.

 

SCID can be classified as T-B+ or T-B- SCID, with further subdivision possible based on the presence or absence of NK cells. T-B+ SCID, characterized by impaired development of mature T-cells along with present but non-functional B-cells, is most often caused by genetic variants that affect cytokine-mediated signaling. X-linked SCID is due to mutations in the IL2RG gene, which encodes the common gamma chain that is a part of the IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21 receptors. Autosomal recessive forms due to variants in JAK3 or IL7R also disrupt cytokine signaling. Genetic variants in one of the four CD3 genes (CD3G, CD3D, CD3E, and CD247[CD3Z]) inhibit CD3 signaling and also cause T-B+ SCID. T-B+ SCID may also be due to coronin-1A deficiency causing disruption of thymic egress of T cells and defective T cell locomotion, or due to CD45 deficiency (caused by variants in PTPRC). Patients with coronin-1A deficiency may also have other syndromic manifestations.

 

T-B-SCID is typically characterized by a defect in V(D)J recombination. V(D)J recombination begins with proteins encoded by RAG1 and RAG2 forming a heterodimer and making a single-stranded nick and forming hairpin structured ends between a coding element (V, D, or J segment) and the recombination signal sequence. Then, in the processing phase, the DNA-protein kinase complex (including a protein encoded by PRKDC) binds to and opens the hairpin structure by phosphorylating Artemis (encoded by DCLRE1C). Prior to ligation of the open ends by LIG4/XRCC4 and Cernunnos/XLF (encoded by NHEJ1), additional editing takes place. Adenosine deaminase (ADA) deficiency, which results in accumulation of metabolic by-products that are toxic to lymphocytes, and results in T-B- and NK-SCID. It accounts for approximately 15% of cases and is inherited as an autosomal recessive condition, which may include neurological problems (ie, cognitive impairment, hearing/visual impairment, and movement disorders) in addition to SCID. Reticular dysgenesis, due to genetic variants in AK2, is the most severe form of combined immunodeficiency and is characterized by congenital agranulocytosis, lymphopenia, lymphoid and thymic hypoplasia, along with bilateral sensorineural deafness.

 

Subsets of T cells may be decreased due to genetic variants in certain genes, without an appreciable effect on other T cell subsets. For example, genetic variants in CD8A, ZAP70, TAP1, TAP2, or TAPBP can result in absent or reduced CD8+ T cells in the presence of normal quantity of CD4+ T cells. In contrast, genetic variants in CIITA, RFXANK, RFX5, or RFXAP result in absent or reduced CD4+ T cells. These genes are associated with bare lymphocyte syndromes types 1 and 2 respectively, or major histocompatibility complex (MHC) class I and II deficiencies. In addition, variants in ITK, MAGT1, RHOH, STK4, TRAC, LCK, MALT1, IL21, IL21R, TNFRSR4 (OX40), IKBKB, CD27, or CTPS1 are thought to generally result in combined immunodeficiency that is generally less clinically profound than SCID.

 

Several combined immunodeficiencies are associated other features and syndromes. Variants in WAS and WIPF1 present with combined immunodeficiency and congenital thrombocytopenia, while variants in RBM8A are associated with thrombocytopenia-absent radius (TAR) syndrome. DNA repair defects are commonly observed along with combined immunodeficiency in ataxia-telangiectasia (due to variants in ATM). Thymic defects with additional congenital anomalies may be observed in DiGeorge syndrome (represented on this panel by TBX1), CHARGE syndrome (due to variants in CHD7 or SEMA3E), and patients with genetic variants in FOXN1. Immune-osseous dysplasias along with combined immunodeficiency may be observed in cartilage hair hypoplasia (due to variants in RMRP), while those with variants in STAT5B may have growth hormone insensitivity. Combined immunodeficiency (CID) along with defects of vitamin B12 and folate metabolism may be observed in patients with genetic variants in SLC46A1 or MTHFD1. Anhidrotic ectodermal dysplasia with immunodeficiency results from genetic variants in IKBKG (NEMO) or NFKBIA (IKBA). Calcium channel defects are an associated feature in those with variants in ORAI1 or STIM1. In addition to CID, patients with variants in TTC7A may have multiple intestinal atresias. Barth syndrome along with combined immunodeficiency can be observed in patients with variants in TAZ. Some of these defects can be identified by newborn screening (NBS) for SCID, while others do not present with severe enough T cell lymphopenia in the neonatal period to be identified by NBS.

 

Table 1. Genes included in the Severe Combined Immunodeficiency (SCID)/Combined Immunodeficiency (CID)/T-cell Lymphopenia/Deficiency/Bare Lymphocyte Syndrome (BLS)/EBV-associated Primary Immunodeficiency Gene Panel

  

GENE SYMBOL (ALIAS)

PROTEIN

OMIM

INCIDENCE

INHERITANCE

PHENOTYPE DISORDER

ADA (ADA1)

Adenosine deaminase

608958

1-9 per million live births

AR, partial ADA deficiency may lead to delayed or milder presentation

SCID (T-B-, Ig-, NK-)

ADA2 (CECR1)

Adenosine deaminase CECR1 isoform a precursor

607575

 

 AR

SCID (T-B-, Ig-, NK-) Sneddon syndrome, polyarteritis nodosa, childhood-onset, early-onset stroke, vasculopathy, B cell immunodeficiency, neutrophil and macrophage polarization defects

AK2

Adenylate kinase 2, mitochondrial isoform a

103020

 

AR

SCID (T-, B-/normal, Ig- with granulocytopenia, deafness), reticular dysgenesis

ATM

Serine-protein kinase ATM

607585

1/40,000-100,000

AR

Ataxia-telangiectasia and combined immunodeficiency (T with abnormal proliferation to mitogens, B+, Ig often decreased [particularly IgA, IgE, and IgG with increased IgM monomers])

CD247 (CD3Z)

T-cell surface glycoprotein CD3 zeta chain isoform 1 precursor

186780

 

AR

SCID (T- B(normal), Ig- NK normal, no gamma/delta T cells

CD27

CD27 antigen precursor

186711

 

AR

Combined immunodeficiency (T+ B no memory, Ig hypogamma-globulinemia following EBV), lymphoproliferative syndrome 2

CD3D

T-cell surface glycoprotein CD3 delta chain isoform A precursor

186790

 

AR

SCID (T-B+, Ig-, NK+, no gamma/delta T cells)

CD3E

T-cell surface glycoprotein CD3 epsilon chain precursor

186830

 

AR

SCID (T-B+, Ig-, NK+, no gamma/delta T cells)

CD3G

T-cell surface glycoprotein CD3 gamma chain precursor

186740

 

AR

Combined immunodeficiency (T-normal with reduced TCR expression, B+ Ig+)

CD8A

T-cell surface glycoprotein CD8 alpha chain isoform 1 precursor

186910

 

AR

CD8 deficiency (normal CD4 cells, B+, Ig+)

CHD7

Chromodomain-helicase-DNA-binding protein 7 isoform 1

608892

 

AD

Combined immunodeficiency (T decreased/normal [response to PHA may be decreased], B+, Ig decreased/normal), CHARGE syndrome

CIITA

MHC class II transactivator isoform 2

600005

 

AR

Combined immunodeficiency (decreased CD4 cells and absent MHC II expression on lymphocytes, B+, Ig decreased/normal)

CORO1A

Coronin-1A

605000

 

AR

SCID (T-B+, Ig-, with detectable thymus EBV-associated B-cell lymphoproliferation), CGD

CTPS1

CTP synthase 1 isoform a

123860

 

AR

Combined immunodeficiency (T decreased/normal with decreased/normal proliferation, B decreased/ normal, Ig high/normal)

DCLRE1C (ARTEMIS)

Protein Artemis isoform a

605988

1/2,000 in Athabaskan-speaking populations

AR

SCID (T-B-, Ig- with radiation sensitivity), omenn syndrome

FOXN1

Forkhead box protein N1

 600838

 

AR

Combined immunodeficiency (T markedly decreased, B+, Ig decreased) congenital alopecia, and nail dystrophy, nude SCID

GATA2

Endothelial transcription factor GATA-2 isoform 1

137295

 

AD

Immunodeficiency with multilineage cytopenias, emberger syndrome, susceptibility to acute myeloid Leukemia and myelodysplastic syndrome

IKBKB

Inhibitor of nuclear factor kappa-B kinase subunit beta isoform 1

 603258

Rare

AR

Combined immunodeficiency (T normal total with absent regulatory and gamma-delta, B normal [impaired BCR activation], Ig decreased)

IKBKG (NEMO)

NF-kappa-B essential modulator isoform a

300248

Rare

XL

Combined immunodeficiency (T decreased/normal with poor activation, B normal [low memory B cells], Ig decreased with poor specific antibody responses), anhidrotic ectodermal dysplasia, mycobacterial susceptibility

IL21

Interleukin-21 isoform 1 precursor

605384

 

AR

Immunodeficiency (T normal number but low function, B low, IgG deficiency), severe early onset colitis

IL21R

Interleukin-21 receptor isoform 1 precursor

605383 

 

AR/AD

Immunodeficiency (abnormal T cell cytokine production and abnormal proliferation to specific stimuli, B normal, Ig normal but impaired specific responses), elevated IgE (autosomal dominant)

IL2RG

Cytokine receptor common subunit gamma precursor

308380

Approximately 1/50,000-100,000 live births

XL

SCID (T-, B+(normal to increased), Ig-, NK-)

IL7R

IL7R

146661

 

AR

SCID (T- B+, Ig decreased, NK+), omenn syndrome

ITK

Tyrosine-protein kinase ITK/TSK

186973 

Rare

AR

Immunodeficiency (progressive T cell disease with normal B cells and normal/decreased Ig), lymphoproliferative syndrome 1, EBV susceptibility

JAK3

Tyrosine-protein kinase JAK3

600173

1/500,000 live births

AR

SCID (T-B+, Ig-, NK-)

LCK

Tyrosine-protein kinase LCK

153390

 

AR

Immunodeficiency (T normal total numbers but CD4 lymphopenia, low Treg, restricted T repertoire and impaired TCR signaling; B normal, Ig: normal IgG and IgA with increased IgM)

LIG4

DNA ligase 4

601837

 

AR

SCID (T-B- Ig-, NK+ with radiation sensitivity, microcephaly, and developmental defects), omenn syndrome, dubowitz syndrome

MAGT1

Magnesium transporter protein 1

300715

 

XL

Combined immunodeficiency (T decreased CD4 and impaired proliferation in response to CD3, B+ Ig+), EBV susceptibility

MALT1

Mucosa-associated lymphoid tissue lymphoma translocation protein 1 isoform a

604860

 

AR

Immunodeficiency (T normal but with impaired proliferation; B+, Ig normal with impaired antibody response)

MTHFD1

C-1-tetrahydrofolate synthase, cytoplasmic

172460

 

AR

Combined immunodeficiency related to folate deficiency (T low, B low, Ig decreased); megaloblastic anemia

NFKBIA (IKBA)

NF-kappa-B inhibitor alpha

164008

Rare

AD

Anhidrotic ectodermal dysplasia with immunodeficiency (T normal number with impaired TCR activation, B normal number with impaired BCR activation, Ig decreased with poor specific antibody responses)

NHEJ1 (Cernunnos/XLF)

Non-homologous end-joining factor 1

611290

 

 

SCID (T-B- Ig- with microcephaly and growth retardation, sensitivity to ionizing radiation)

ORAI1

Calcium release-activated calcium channel protein 1

610277

 

AR

Immunodeficiency (T normal with defected TCR activation, B normal, Ig normal)

PNP

Purine nucleoside phosphorylase

164050

 

AR

CID (T-, B+, Ig low/normal), PNP deficiency, neurological deficits

PRKDC

DNA-dependent protein kinase catalytic subunit isoform 1 (DNA-PKcs)

600899

 

AR

SCID (T-B-, Ig- with radiation sensitivity, microcephaly, and developmental defects)

PTPRC (CD45)

Receptor-type tyrosine-protein phosphatase C isoform 1 precursor

151460

Unknown

AR

SCID (T-B+ Ig- normal gamma/delta T cells, NK+)

RAC2

Ras-Related C3 botulinum toxin substrate 2

602049

 

AD (in progress)

Neutrophil immunodeficiency syndrome; identified with T cell lymphopenia in NBS SCID; may affect T cell numbers and/or function

RAG1

V(D)J recombination-activating protein 1

179615

Approximately 1/100,000 live births

AR

SCID (T-B-, Ig-, NK+), omenn syndrome

RAG2

V(D)J recombination-activating protein 2

179616

Approximately 1/100,000 live births

AR

SCID (T-B-, Ig-, NK+), omenn syndrome

RBM8A

RNA-binding protein 8A

605313

 

AR

Thrombocytopenia-absent radius syndrome

RFX5

DNA-binding protein RFX5

601863

 

AR

Bare lymphocyte syndrome (decreased CD4 cells and absent MHC II expression on lymphocytes, B+, Ig+/decreased)

RFXANK

DNA-binding protein RFXANK isoform a

603200

 

AR

Bare lymphocyte syndrome (decreased CD4 cells and absent MHC II expression on lymphocytes, B+, Ig+/decreased)

RFXAP

Regulatory factor X-associated protein

601861

 

AR

Bare lymphocyte syndrome (decreased CD4 cells and absent MHC II expression on lymphocytes, B+, Ig+/decreased)

RHOH

Rho-related GTP-binding protein RhoH precursor

602037

 

AR

Combined immunodeficiency (T normal but low naive T cells, restricted repertoire, and impaired proliferation in response to CD3; B+, Ig+)

RMRP

RNA component of mitochondrial RNA processing endoribonuclease

157660

 

AR

Cartilage-hair hypoplasia, SCID (T severely decreased to normal with impaired proliferation; B_, Ig normal or reduced); Omenn syndrome

SEMA3E

Semaphorin-3E isoform 1 precursor

608166

 

AD

CHARGE syndrome; Combined immunodeficiency (T decreased/normal [response to PHA may be decreased], B+, Ig decreased/normal)

SH2D1A

SH2 domain-containing protein 1A isoform 1

300490

1/million males

XL

X-linked lymphoproliferative syndrome (normal/increased activated T cells, reduced memory B cells, partially defective NK cell and CTL cytotoxic activity)

SLC46A1

Proton-coupled folate transporter isoform 1

611672

 

AR

Combined immunodeficiency related to folate deficiency (T variable, B variable, Ig decreased); megaloblastic anemia

STAT5B

Signal transducer and activator of transcription 5B

604260

Rare

AR

Immunodeficiency (T modestly decreased, B+, Ig+) with growth hormone insensitivity

STIM1

Stromal interaction molecule 1 isoform 2 precursor

605921

 

AR/AD

Immunodeficiency (T normal with defective TCR mediated activation, B+, Ig+)(AR)

STK4

SERINE/THREONINE PROTEIN KINASE 4

614868

 

AR

Combined immunodeficiency (T: altered proportion of terminal differentiated effector memory cells with restricted repertoire, low naive T cells, impaired proliferation; B decreased, Ig high)

TAP1

Antigen peptide transporter 1 isoform 1

170260

 

AR

Bare lymphocyte syndrome (decreased CD8 with absent MHC I expression on lymphocytes, normal B cells, normal Ig) with vasculitis

TAP2

Antigen peptide transporter 2 isoform 2

170261

 

AR

Bare lymphocyte syndrome (decreased CD8 with absent MHC I expression on lymphocytes, normal B cells, normal Ig) with vasculitis

TAPBP

Tapasin isoform 1 precursor

601962

 

AR

Bare lymphocyte syndrome (decreased CD8 with absent MHC I expression on lymphocytes, normal B cells, normal Ig) with vasculitis

TAZ

Tafazzin isoform 1

300394

 

XL

Barth syndrome

TBX1

T-box transcription factor TBX1 isoform C

602054

 

AD

DiGeorge syndrome with immunodeficiency (T decreased or normal, B normal, Ig normal or decreased)

TNFRSF4 (OX40)

Tumor necrosis factor receptor superfamily member 4 precursor

600315

 

AR

Immunodeficiency (normal T cell numbers with decreased antigen specific memory CD4; normal B cell numbers with reduced memory B cells; normal Ig)

TRAC

T cell receptor alpha constant

186880

 

AR

Immunodeficiency (TCR-alpha/beta deficiency and impaired T cell proliferation; B+, Ig+)

TTC7A

Tetratricopeptide repeat protein 7A isoform 2

609332

 

AR

Immunodeficiency with multiple intestinal atresias (T variable/ absent, B+, Ig decreased)

WAS

Wiskott-Aldrich syndrome protein

300392

 

XL, GOF

Wiskott-Aldrich syndrome (progressive disease with abnormal lymphocyte responses to anti-CD3, B+, Ig: decreased IgM, decreased antibody responses to polysaccharides, often increased IgA and IgE)

WIPF1

WAS/WASL-interacting protein family member 1

602357

 

AR

Wiskott-Aldrich syndrome (reduced/defective lymphocyte responses to anti-CD3; B low; Ig normal except increased IgE)

XIAP (BIRC4)

E3 ubiquitin-protein ligase XIAP

300079

1/million males

XL

X-linked lymphoproliferative syndrome (increased T cell susceptibility to apoptosis to CD95 and enhanced activation-induced cell death)

ZAP70

Tyrosine-protein kinase ZAP-70 isoform 1

176947

 

AR

Selective

 

ADA=adenosine deaminase

AD=autosomal dominant

AR=autosomal recessive

GOF=gain of function

MHC=major histocompatibility complex

XL=X-linked

Reference Values

An interpretive report will be provided.

Interpretation

Evaluation and categorization of variants is performed using the most recent published American College of Medical Genetics and Genomics (ACMG) recommendations as a guideline. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

 

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 predictions made by these tools may change over time. Results from in silico evaluation tools should be interpreted with caution and professional clinical judgment.

Clinical Reference

1. Picard C, Gaspar HB, Al-Herz W, et al: International Union of Immunological Societies: 2017 Primary Immunodeficiency Disease Committee Report on Inborn Errors of Immunity, J Clin Immunol 2018; 38:96-128

2. Shearer WT, Dunn E, Notarangelo LD, et al: Establishing Diagnostic Criteria for SCID, Leaky SCID, and Omenn Syndrome: The Primary Immune Deficiency Treatment Consortium Experience. J Allergy Clin Immunol April 2014;133(4):1092-1098

3. Bousfiha AA, Jeddane L, Ailal F, et al: A Phenotypic Approach for IUIS PID Classification and Diagnosis: Guidelines for Clinicians at the Bedside. J Clin Immunol 2013;33:1078-1087

4. Raje N, Soden S, Swanson D, et al: Utility of Next Generation Sequencing in Clinical Primary Immunodeficiencies. Curr Allergy Asthma Rep 2014;14:468

5. Taylor GS, Long HM, Brooks JM, et al: The Immunology of Epstein-Barr Virus-Induced Disease, Annu. Rev Immunol 2015;33:787-821

6. DeSandro A, Nagarajan UM, Boss JM: The Bare Lymphocyte Syndrome: Molecular Clues to the transcriptional Regulation of Major Histocompatability Complex Class II Genes. Am J Hum Gen 1999;65:279-286

7. Walkovich K, Vander Lugt M: ZAP70-Related Combined Immunodeficiency. In GeneReviews. Edited by RA Pagon, MP Adam, HH Ardinger, et al: University of Washington, Seattle, 1993-2018. 2009 Oct 20 (Updated 2017 June 8). Accessed 11/27/2017. Available at https://www.ncbi.nlm.nih.gov/books/NBK20221/

8. Hershfield M: Adenosine Deaminase Deficiency. In Gene Reviews. Edited by RA Pagon, MP Adam, HH Ardinger, et al. University of Washington, Seattle, 1993-2018. 2006 Oct 3 (Updated 2017 Mar 16). Accessed 11/27/2017. Available at https://www.ncbi.nlm.nih.gov/books/NBK1483/

9. Allenspach E, Rawlings DJ, Scharenberg AM: X-Linked Severe Combined Immunodeficiency. In Gene Reviews. Edited by RA Pagon, MP Adam, HH Ardinger, et al. University of Washington, Seattle. 1993-2018. 2003 Aug 26 (Updated 2016 Apr 14). Accessed 11/27/2017. Available at https://www.ncbi.nlm.nih.gov/books/NBK1410/

10. Crequer A, Picard C, Patin E, et al: Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections, PLOS ONE 2012;7(8):e44010

11. Kwan A, Abraham RS, Currier R, et al: Newborn screening for Severe Combined Immunodeficiency in 11 screening programs in the United States. JAMA 2014;312:729-738

Day(s) and Time(s) Performed

Varies

Analytic Time

2 weeks

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81443

LOINC Code Information

Test ID Test Order Name Order LOINC Value
SCDGP SCID PID Gene Panel In Process

 

Result ID Test Result Name Result LOINC Value
BA3935 Gene(s) Evaluated 36908-2
BA3936 Result Summary 50397-9
BA3937 Result Details 82939-0
BA3938 Interpretation 69047-9
BA3939 Additional Information 48767-8
BA3940 Method 49549-9
BA3941 Disclaimer 62364-5
BA3942 Reviewed by 18771-6
Mayo Clinic Laboratories | Pediatric Catalog Additional Information:

mcl-newborn