Glycine Encephalopathy Panel
Use
This test is intended for individuals who have features consistent with a clinical or suspected diagnosis of glycine encephalopathy, also known as nonketotic hyperglycinemia. It is particularly relevant for those who exhibit elevated glycine levels in both plasma and cerebrospinal fluid (CSF), along with an abnormal CSF-to-plasma glycine ratio. The panel is also applicable for patients with either neonatal or early infantile onset of symptoms related to this condition.
Special Instructions
Ensure suitable specimen types are collected according to platform requirements. The Exome Platform accepts blood, DNA, buccal, saliva, or tissue samples; the Genome Platform accepts blood, or DNA samples. Specimens should be collected following the specified guidelines to ensure valid results.
Limitations
The test might not detect all genetic variations associated with glycine encephalopathy due to limitations inherent in the sequencing platforms. Some CNVs may be missed, especially those outside the scope of the targeted regions for the panel. Although NGS with CNV analysis is employed, not all genes are covered at the same depth or accuracy, potentially leading to false negatives in certain genetic backgrounds or regions with homologous sequences.
New York Approved
Methodology
NGS (Other)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided