Test Catalog

Test ID: BCLGP    
B-Cell Deficiency 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 primary B-cell deficiencies and related disorders

 

Patients with B cell immunodeficiencies who may have other clinical presentations, besides the humoral immune defect, such as inflammatory bowel disease, autoimmunity, or other as indicated above

 

Establishing a diagnosis of a B-cell deficiency or related disorder, in some cases, allowing for appropriate management and surveillance for disease features based on the gene involved

 

Identifying variants within genes known to be associated with increased risk for disease features 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.

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
_PMS2PGL_PMS2C (Bill Only)NoNo

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

The PMS2 gene will be performed on whole blood or DNA submitted samples only at an additional charge via Sanger Sequencing and MLPA when clinical history of defective immunoglobulin class switching is provided.

 

Due to lower concentration of DNA yielded from alternate specimen sources, _PMS2 cannot be performed on any sample type other than whole blood or DNA extracted from whole blood.

 

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

B-cell Deficiency PID Gene Panel

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

AICDA
Agammaglobulinemia
Autoimmune lymphoproliferative syndrome, type II
B-cell expansion with NFKB and T-cell anergy
BLNK
BTK
CD79A
CD79B (B29)
CARD11
CD19
CD27
CD40
CD40LG
CD81
Common variable immunodeficiency 1
Common variable immunodeficiency 2
Common variable immunodeficiency 3
Common variable immunodeficiency 4
Common variable immunodeficiency 5
Common variable immunodeficiency 6
Common variable immunodeficiency 7
Common variable immunodeficiency 8
Common variable immunodeficiency 10
CR2 (CD21)
CVID
CXCR4
Emberger syndrome
GATA2
ICOS
IGHM
IGLL1 (Lambda5)
IKZF1 (IKAROS)
LRRC8A
Lymphoproliferative syndrome 2
MALT1
MS4A1 (CD20)
NEMO deficiency
NFKB2
PIK3R1
PIK3CD
PLCG2
PRKCD
RIDDLE syndrome
RNF168
SH2D1A
TCF3 (E47)
TNFRSF13B (TACI)
TNFRSF13C
TNFSF12 (TWEAK)
TWEAK deficiency
UNG
WHIM syndrome
X-linked agammaglobulinemia
X-linked lymphoproliferative syndrome
Primary Immunodeficiency