Rapid PGnome® - Patient Only

Casandra

Casandra Test Code PG96731Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 14000

Rapid PGnome® - Patient Only

Clinical Use

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.

Test Details

New York Approved

Methodology

NGS (WGS)

Biomarkers

The test involves sequencing the entire genome to identify pathogenic, likely pathogenic, and variants of uncertain significance related to the patient's clinical features. It includes analysis for both nuclear and mitochondrial genome variants, as well as copy number variants (CNVs).

Whole Genome Sequencing • WGS