AGAMMAGLOBULINEMIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 27 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Agammaglobulinemia Panel studies 27 genes associated with developmental and signaling defects in B lymphocytes that result in profound hypogammaglobulinemia, recurrent sinopulmonary infections, chronic diarrhea, and poor vaccine response. Using next-generation sequencing (NGS) (SNVs, indels, and CNVs), it investigates alterations in pre-B cell receptor/BCR pathways, heavy/light chain assembly, glycosylation, and PI3K–NF-κB pathways that lead to bone marrow maturation block or peripheral B cell dysfunction. Some of the genes included in this panel are: BTK, BLNK, CD19, CD79A, CD79B, CD81, TCF3, PIK3CD, PIK3R1, SH2D1A, GATA2, DNMT3B, LIG1, MOGS, and ZBTB24, among others. The complete list of genes can be obtained by contacting Genotica.
Other tests
Preventive health test - AboutMe EXOME
545,00€
NEUROFIBROMATOSIS: GENES SMARCB1 Y LZTR1 (NGS-Sec) – ATG Medical
600,00€
Custom sequencing panels (1 to 15 genes)
660,00€