Invitae Elevated Glycine Panel (including Glycine Encephalopathy)
Use
The Invitae Elevated Glycine Panel analyzes genes associated with elevated plasma or CSF glycine levels. It is particularly useful for diagnosing glycine encephalopathy in patients showing relevant clinical symptoms or biochemical findings. This test helps distinguish neonatal glycine encephalopathy from a transient form of the condition. Glycine encephalopathy, an autosomal recessive disorder, leads to progressive encephalopathy, hypotonia, seizures, and can cause several other clinical symptoms. This test provides information that is crucial for patient diagnosis and management.
Special Instructions
The test offers full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology. Sequence analysis covers essential regions of each gene, including coding exons and adjacent intronic sequences. Certain non-coding variants are also analyzed. Some variant types and sequencing properties may not be detectable. It is critical to consult the test definition for details on covered and excluded regions.
Limitations
The assay achieves >99% sensitivity and specificity for single nucleotide variants, small insertions/deletions, and exon-level deletions/duplications. Larger insertions and deletions may have marginally reduced sensitivity and certain variants like structural rearrangements may not be detected. It may not fully resolve details like mosaicism. Sequence changes in some regions are not covered by this assay and DNA from certain medical conditions may not represent the constitutional genome.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)