Test Catalog

Test ID: SCDGP    
Severe Combined Immunodeficiency (SCID) 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 severe combined immunodeficiency (SCID), combined immunodeficiency (CID), T-cell lymphopenia/deficiency, bare lymphocyte syndrome (BLS), or EBV-associated primary immunodeficiency (PID)

 

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 PID 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 ADA(ADA1), ADA2 (CECR1), AK2, ATM, CD247(CD3Z), CD27, CD3D, CD3E, CD3G, CD8A, CHD7, CIITA, CORO1A, CTPS1, DCLRE1C(ARTEMIS), FOXN1, GATA2, IKBKB, IKBKG(NEMO), IL21, IL21R, IL2RG, IL7R, ITK, JAK3, LCK, LIG4, MAGT1, MALT1, MTHFD1, NFKBIA(IKBA), NHEJ1, ORAI1, PNP, PRKDC, PTPRC(CD45), RAC2, RAG1, RAG2, RBM8A, RFX5, RFXANK, RFXAP, RHOH, RMRP, SEMA3E, SH2D1A, SLC46A1, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TAZ, TBX1, TNFRSF4(OX40), TRAC, TTC7A,WAS, WIPF1, XIAP(BIRC4), ZAP70 genes.

 

This test uses Sanger sequencing to test for variants in certain exons of the following genes:

IKBKG (NEMO) Exons 3-10

CORO1A Exon 11

STAT5B Exons 6-8

 

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

SCID PID Gene Panel

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

ADA(ADA1)
ADA2 (CECR1)
AK2
Anhidrotic ectodermal dysplasia with immunodeficiency
ATM
Ataxia-telangiectasia and combined immunodeficiency
Bare lymphocyte syndrome
Barth syndrome
Cartilage-hair hypoplasia
CD247(CD3Z)
CD27
CD3D
CD3E
CD3G
CD8A
CHARGE syndrome
CHD7
CIITA
Combined immunodeficiency
CORO1A
CTPS1
DCLRE1C(ARTEMIS)
DiGeorge syndrome
Emberger syndrome
FOXN1
GATA2
IKBKB
IKBKG(NEMO)
IL21
IL21R
IL2RG
IL7R
Immunodeficiency with multilineage cytopenias
ITK
JAK3
LCK
LIG4
Lymphoproliferative syndrome 2
MAGT1
MALT1
MTHFD1
Neutrophil immunodeficiency syndrome
NFKBIA(IKBA)
NHEJ1
ORAI1
PNP
PRKDC
PTPRC(CD45)
RAC2
RAG1
RAG2
RBM8A
RFX5
RFXANK
RFXAP
RHOH
RMRP
SEMA3E
Severe combined immunodeficiency
SH2D1A
SLC46A1
STAT5B
STIM1
STK4
TAP1
TAP2
TAPBP
TAZ
TBX1
Thrombocytopenia-absent radius syndrome
TNFRSF4(OX40)
TRAC
TTC7A
WAS
WIPF1
Wiskott-Aldrich syndrome
X-linked lymphoproliferative syndrome
XIAP(BIRC4)
ZAP70
XMEN syndrome
Primary Immunodeficiency