Suggested Custom Slice – Albinism

Casandra

Casandra Test Code GE83736Version 1 (DRAFT)

Performing Lab

Lab GeneDxLab Test ID 956

Suggested Custom Slice – Albinism

Clinical Use

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

Requires that the patient previously had full exome analysis at GeneDx; appropriate for phenotype-driven selection of albinism genes. The gene list must be approved; modifications require contacting [email protected]. Mitochondrial, noncoding, regulatory, and deeply intronic regions are not captured. Coverage may vary by gene and is provided in the report. Genes with poor coverage or technical limitations may not be appropriate for inclusion.

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.)

Test Details