PGmax™ - Comprehensive Inherited Metabolic Disorders and Mitochondrial Disorders (Nuclear Genes only) Panel
Use
This test is designed for individuals with suspected or confirmed inherited metabolic disorders or mitochondrial disorders. It covers over 1,300 nuclear genes associated with these conditions, targeting disorders in various metabolic processes, such as amino acid metabolism, carbohydrate metabolism, fatty acid oxidation, and energy metabolism. Given the genetic and clinical heterogeneity, this panel provides comprehensive genetic testing, potentially with reflex to exome sequencing if warranted. The inclusion of exome-wide CNV analysis or genome-wide SV analysis augments the diagnostic capacity of the test.
Special Instructions
Exome platform utilizes capture and amplification-based NGS to sequence coding regions of nearly all genes and adjacent non-coding DNA. Genome platform employs PCR-free NGS for coding regions, intronic and intergenic regions, focusing analysis on coding exons. Exome-wide CNV analysis or genome-wide SV analysis is included. Pathogenic and likely pathogenic CNVs over 250 kb are reported regardless of gene panel association.
Limitations
Test has limitations, particularly in detecting variants within regions of high sequence similarity, repetitive elements, or paralogy. Difficulties exist in detecting chimeric genes between CYP11B1 and CYP11B2, variants in DARS2, CHSY1, PLIN1, and SDHA genes. Detection of MTHFR common polymorphisms is not offered due to limited clinical utility. LPL gene duplications are not detectable. For more details on limitations, refer to the Test Methods page.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided