PGnome® - Whole Genome Test
Use
The PGnome Whole Genome Test is designed for individuals with congenital anomalies, intellectual disabilities, developmental delays, autism spectrum disorders, and unexplained epilepsy. It assists in identifying the underlying genetic cause in cases with significant genetic heterogeneity and unresolved genetic testing results. It is suitable for individuals with clinical features suggesting a genetic diagnosis not aligned with a well-defined syndrome.
Special Instructions
Ensure informed consent is obtained as required by applicable laws. Clinical features checklist and relevant medical records are required for accurate interpretation, especially for diagnostic and rapid PGnome. For specimens collected in New York, a Healthcare Provider Statement is required. Family member information is crucial for proper interpretation and potentially increases the chance of conclusive results.
Limitations
WGS primarily reports on coding regions (approximately 1.5% of genetic material). Full genome not covered due to current technological limitations, such as reconstituted tandem repeats, paralogous genes, and repeat sequences. Sequencing focuses on exons and immediate flanking regions. Sequence variants may not be detected if alleles do not amplify. Phase determination of sequence variants is generally not possible. The sensitivity for detecting low-level mosaicism is limited.
New York Approved
Methodology
NGS (WGS)
Biomarkers
Result Turnaround Time
3-5 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Whole Blood collected for genomic DNA extraction. DNA can also be extracted directly from blood samples.