PGmax™ - Comprehensive Inherited Kidney Diseases Panel
Use
The PGmax™ - Comprehensive Inherited Kidney Diseases Panel is intended for individuals with relevant features suggestive of hereditary kidney disorders or those with a family history indicating a possible genetic basis of kidney disease without prior genetic testing. The panel aims to provide comprehensive genetic analysis to identify potential causative mutations affecting kidney function, thus facilitating diagnosis and management of inherited kidney conditions.
Special Instructions
For exome platform, various specimen types including blood, DNA, buccal, saliva, and tissue are acceptable. Genome platform requires blood or DNA. Exome-Wide CNV Analysis is included. STAT testing options are available for urgent needs. Order can be placed through standard institutional processes or by contacting the support team for assistance.
Limitations
Limitations are inherent to the sequencing technology and panel composition. Variants in non-coding regions may not be detected. Sensitivity may be lower for regions with high GC content. Large deletions, duplications, or complex rearrangements beyond the resolution of CNV detection may not be identified, albeit covered to some extent by CNV analysis included in the panel.
New York Approved
Methodology
NGS (Exome)
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