PGmax™ - Neonatal Crisis Panel
Use
This test is designed for individuals with relevant clinical features who have a confirmed or suspected diagnosis of severe prenatal, neonatal, or early childhood disorders. It targets individuals with symptom onset before the age of 2 years and those with abnormal prenatal ultrasound findings that necessitate genetic diagnosis. The panel includes genes associated with a broad spectrum of disorders that may present as a neonatal crisis, allowing for comprehensive assessment and diagnosis of underlying genetic conditions.
Special Instructions
This test can be ordered as Proband, Duo, or Trio configurations, accommodating different familial testing scenarios. Exome-Wide CNV Analysis and STAT Testing options are included. The test is compatible with both Exome and Genome Platforms, with a focus on rigorous diagnosis guided by clinical information such as detailed clinical notes or checklists. New York State approval is confirmed, meeting specific regulatory requirements.
Limitations
The test is subject to inherent limitations of next-generation sequencing technology, including the possibility of missing mutations present in only a minor subset of cells or those occurring in genomic regions of low coverage or sequence complexity. Structural variants and deletions may not be detected if they fall below the resolution limit of the platform. Interpretation is contingent on the quality of provided clinical information, which influences the ability to correctly identify clinically significant variants.
New York Approved
Methodology
NGS (Exome or Genome Platform)
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided