Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Panel

Casandra

Casandra Test Code PG25171Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 10317CPT Code 81479

Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Panel

Clinical Use

Use

This test is intended for individuals with a clinical or suspected diagnosis of holoprosencephaly (HPE), those with a family history of HPE in first-degree relatives, and individuals with normal chromosomal microarray and karyotype results but with a clinical or suspected diagnosis of HPE. The panel is designed to detect genetic variants that may cause or contribute to HPE.

Special Instructions

The test requires the completion of a clinical features checklist or provision of clinical notes/records, including family medical history and pedigree if available, to aid in the accurate interpretation of results.

Limitations

The performance characteristics of these tests have been validated by PreventionGenetics following CAP and CLIA regulations, but they have not been cleared or approved by the FDA. The test is susceptible to all limitations typical of NGS, such as incomplete coverage of certain regions and inability to detect certain types of genetic changes like repeat expansions.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

The Holoprosencephaly panel involves Next Generation Sequencing with Copy Number Variation analysis using either the Exome or Genome platform, covering 14 genes implicated in Autosomal Dominant Nonsyndromic Holoprosencephaly.

NGS with CNV • CGP