Suggested Custom Slice – Albinism
Use
This test is a custom slice of exomic analysis focused on genes implicated in albinism. It allows providers to request analysis of selected genes—typically 2 to 150—associated with the albinism phenotype, following prior exome sequencing. The analysis reports pathogenic, likely pathogenic, and variants of uncertain significance (VUS), with single heterozygous VUS in autosomal recessive genes noted in a separate section. Benign and likely benign variants are excluded. This is designed for situations where a focused gene set is desired to maximize sensitivity for phenotype-relevant genes within albinism. Variants are described using HGVS nomenclature, and any CNVs are reported by probe or exon coordinates when available. (Derived from GeneDx custom slice description.)
Special Instructions
Not provided.
Limitations
Only selected genes in the approved list are analyzed. Genes with poor exome coverage or those affected by homologous regions may yield unreliable results. The technology does not assess mitochondrial genome genes, non‑coding genes, regulatory elements, or deep intronic regions. Variant reporting excludes benign/likely benign alterations. Coverage estimates are approximate and individualized coverage per gene is available only in the report. (Based on custom‑slice limitations guidance.)
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
Other tests from different labs that may be relevant