Invitae Hypoglycemia Panel
Use
The Invitae Hypoglycemia panel is designed for patients experiencing recurrent episodes of hypoglycemia, which can present with symptoms such as sweating, weakness, tremor, and vomiting. If left untreated, these episodes can escalate to seizures, confusion, irritability, coma, and death. This genetic panel helps in confirming a diagnosis, thereby facilitating appropriate treatment and management strategies. The test assesses genes associated with various conditions like glycogen storage disorders, congenital disorders of glycosylation, fatty acid oxidation disorders, branched chain organic acidurias, and congenital hyperinsulinism.
Special Instructions
For specimen collection, the preferred specimen is 3mL of whole blood in a purple-top EDTA tube. Alternative specimens such as saliva, buccal swab, and gDNA are accepted as well. It is advisable to request a specimen collection kit for convenient collection and submission of samples.
Limitations
The assay provides full-gene sequencing and deletion/duplication analysis for clinically relevant regions. While it covers coding exons and adjacent intronic sequences, some variants located in complex genomic regions may not be detected. The analysis may miss certain structural rearrangements or mosaics. Additionally, single-exon copy number variants might not be analyzed due to sequence properties or reduced data quality, and promoter or non-coding regions are not routinely covered unless specified.
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)