Rapid PGnome® - Patient Only
Use
The Rapid PGnome Test is intended for seriously ill individuals with an urgent need for a genetic diagnosis that may impact acute medical management. It is suitable for individuals with suspected diagnoses associated with significant genetic heterogeneity or clinical features suggesting an underlying genetic diagnosis that do not align with a well-defined syndrome. This whole genome sequencing test uses Next Generation Sequencing to identify variants across the entire genome, focusing on diagnosing genetic conditions swiftly.
Special Instructions
A healthcare provider statement is required for New York specimens. Clinical information such as a Clinical Features Checklist and relevant medical records are mandatory for diagnostic and rapid PGnome. Family testing is recommended for accurate interpretation. Testing is ideally conducted with a trio (proband and biological parents) to enhance diagnostic yield. Results are sent directly to the ordering provider and not the patient.
Limitations
The test captures nearly all coding regions of the genome but may miss certain non-coding regions and structural rearrangements. It may not detect all genetic changes, such as balanced translocations or some low-level mosaicism. Some parts of the genome, such as tandem repeats, may not be sequenced effectively with current technology. Future advancements may lead to better variant interpretation.
New York Approved
Methodology
NGS (WGS)
Biomarkers
Result Turnaround Time
8-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3-5 ml
Minimum Volume
Not provided