Blood or cheek swabs may be submitted for PCR to identify the mutant allele of the DNA-PK gene in order to obtain definitive diagnosis. The test also identifies carriers of the disease which is important for screening prior to breeding. Additionally, post mortem findings of a small thymus and/or absent lymph nodes combined with the presence of opportunistic infections support a diagnosis of SCID. Histologically, lymph node follicles and germinal centres are absent with severe cellular hypoplasia of the thymus and lymph nodes. | Blood or cheek swabs may be submitted for PCR to identify the mutant allele of the DNA-PK gene in order to obtain definitive diagnosis. The test also identifies carriers of the disease which is important for screening prior to breeding. Additionally, post mortem findings of a small thymus and/or absent lymph nodes combined with the presence of opportunistic infections support a diagnosis of SCID. Histologically, lymph node follicles and germinal centres are absent with severe cellular hypoplasia of the thymus and lymph nodes. |