Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication
Also known as: PAD PANEL
Use
This test is used to determine the genetic etiology of disease in individuals with a suspected or confirmed diagnosis of a primary antibody deficiency, such as agammaglobulinemia, hyper-IgM syndrome, or common variable immunodeficiency. The test provides valuable information for the clinical management of patients with these conditions by identifying pathogenic variants in relevant genes, which can influence treatment decisions and genetic counseling.
Special Instructions
Counseling and informed consent are recommended for all individuals undergoing genetic testing. New York clients must complete an informed consent form for genetic testing and patient history for primary antibody deficiency genetic testing. Specimens from New York clients will be sent to a New York state-approved laboratory. It is not intended for individuals who have not undergone previous clinical immunodeficiency testing.
Limitations
This test is not FDA cleared or approved. It detects variants in the coding regions and exon-intron boundaries of the targeted genes, with limitations including the inability to detect certain duplications and deletions of two or fewer exons. Regulatory region and deep intronic variants are not identified, and detection of low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA mutations, or repeat expansions are outside the scope of this test. Variants in certain exons of genes such as CXCR4, DCLRE1C, PRKCD, and XIAP may not be detected due to technical limitations.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
3 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |