Custom Slice – Palmoplantar Keratoderma / Congenital Ichthyosis
Use
This custom slice test is designed for clinicians to target genes associated with palmoplantar keratoderma and congenital ichthyosis. It provides a tailored gene set to aid in diagnosing these rare keratinization disorders, enabling more focused genetic analysis in suspected cases.
Special Instructions
Clinicians can specify selection of 2–150 genes within the Custom Slice format. Ordering requires standard GeneDx procedures including submission of patient medical records, pedigree, and relevant clinical documentation.
Limitations
Limits depend on the selected gene subset. Coverage and sensitivity are dependent on which genes are included in the slice. Detection may be limited for variants outside coding regions or smaller CNVs not well-captured by NGS.
Methodology
NGS
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided