Ectodermal Dysplasia via the EDA Gene
Use
This test is designed for individuals exhibiting features consistent with X-linked hypohidrotic ectodermal dysplasia or selective tooth agenesis. It is also applicable for family members of patients known to have EDA gene mutations, offering insight into potential genetic predispositions and aiding in diagnosis.
Special Instructions
The test allows for flexibility in specimen type based on the platform used. Blood, DNA, buccal swabs, saliva, or tissue samples are acceptable for the exome platform, while blood and DNA are applicable for the genome platform. Testing can be expedited with STAT options available, ensuring timely results in urgent scenarios.
Limitations
The test is limited by the type of specimen submitted and the coverage of the EDA gene. While NGS provides high-resolution analysis, uncommon variants or novel mutations may not be detected or interpreted accurately without established correlational data. Additionally, CNV detection can be influenced by sample quality and genomic context.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided