Suggested Custom Slice – Ectodermal Dysplasia
Use
This Custom Slice test is designed to provide a targeted analysis for ectodermal dysplasia by enabling clinicians to specify a custom list of genes (multigene, 2–150 genes) related to ectodermal dysplasia, facilitating focused diagnostic evaluation when ectodermal dysplasia is suspected.
Special Instructions
Ordering clinicians must specify the genes to be analyzed at the time of ordering. Changes to the gene list can only be made by contacting GeneDx directly ([email protected]), and only genes preselected will be analyzed. This test uses genomic DNA from submitted specimens; parental or family member samples can be included if appropriate (e.g., trio or duo testing).
Limitations
Only selected genes included on the approved gene list are analyzed. Genes with poor exome coverage, homology issues, mitochondrial genes, non‑coding genes, regulatory or deep intronic regions are not captured or analyzed. Copy number variants are only detected when spanning ≥3 exons. Coverage varies by gene; actual coverage provided in report.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Extracted DNA
Volume
Not provided
Minimum Volume
Not provided
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