This panel looks at the AR and SRD5A2 genes, which are involved in the development of external sex characteristics in individuals with a 46,XY chromosome pattern. Changes in the AR gene can cause the body to not respond properly to androgens, while changes in the SRD5A2 gene can interfere with the body’s ability to produce a key form of testosterone. Testing these genes can help clarify the cause of atypical genital development, support treatment planning, and guide decisions about gender assignment. Results may also provide helpful information for family members and support genetic counseling.
This test does not detect polyglutamine repeat expansions in the AR gene that are associated with Kennedy’s disease.
Targeted Exome/ Slice Exome (Next Generation Sequencing including Copy Number Variation)
120x
All sequencing technologies have limitations. A negative result from this analysis does not rule out a possible genetic diagnosis as some variants may not be detected by this test. This test is not designed to detect low level mosaicism, structural rearrangements, indels >40bp, deep intronic variants of unknown clinical significance, or large cytogenetic CNVs. Certain inherent qualities of the human genome, for example repetitive regions/homopolymers, GC rich, pseudogenes, and rare polymorphisms, pose significant technical challenges such as sequence misalignment that may potentially impact the accuracy of the results. False negative results may also occur in the setting of allogeneic bone marrow, stem cell transplantation, active or chronic hematologic conditions, recent blood transfusions, suboptimal DNA quality or PCR trace contamination. Other potential sources of error include sample mix-ups and clerical issues.