PGxome® - Health Screen Exome Test

Casandra

Casandra Test Code PG78973Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 4000

PGxome® - Health Screen Exome Test

Clinical Use

Use

The PGxome Health Screen Exome Test is designed for individuals and couples pursuing carrier screening for inherited disorders, individuals exploring genetic risk for adult-onset conditions such as cancer, heart disease, and neurodegenerative disorders, and those with a family history who want to clarify their carrier status and personal health risks. It assesses almost all genes from the human genome, focusing on coding regions and adjacent introns. The test is aimed at providing pan-ethnic carrier screening and identifying genetic variants related to autosomal recessive or X-linked disorders.

Special Instructions

The test utilizes Next Generation Sequencing (NGS) with an Exome Platform, including CNV analysis. Specimens can be blood, buccal, saliva, or tissue. It is recommended to order through a qualified healthcare provider. Genetic counseling before and after testing is advised.

Limitations

The test targets most, but not all, coding regions (exons) of genes, which constitute about 1.5% of the entire genome. While the test can detect single nucleotide variants and copy number variants, it cannot reliably detect other types of genetic changes such as balanced translocations or inversions. Some genes may not be sequenced accurately due to the presence of pseudogenes or other technical reasons. Results must be interpreted alongside clinical findings, and not all clinically relevant sequences will be reported.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

This test performs whole exome sequencing to assess clinically relevant genes. It focuses on identifying pathogenic and likely pathogenic variants associated with recessive diseases and adult-onset disorders by sequencing nearly all human genes.

PGxome Health Screen Exome • CGP