PGxome® - Health Screen Exome Test
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.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
21-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided