Invitae Pyruvate Metabolism and Related Disorders Panel
Use
The Invitae Pyruvate Metabolism and Related Disorders Panel analyzes genes associated with primary and secondary pyruvate dehydrogenase complex deficiency, as well as disorders of thiamine, lipoic acid metabolism, and phospholipid biosynthesis defects. This test is useful for diagnosing patients with clinical symptoms indicative of pyruvate metabolism defects, confirming a diagnosis, assessing differential diagnoses, and guiding treatment and management decisions. Identification of disease-causing variants assists with risk assessment and carrier status for at-risk relatives.
Special Instructions
You can customize this test by clicking genes to remove them. Preferred specimen is whole blood in a purple-top EDTA tube, but saliva, buccal swab, and gDNA are also accepted. Turnaround time is approximately 14 days on average, ranging from 10 to 21 calendar days.
Limitations
The test employs next-generation sequencing (NGS) to cover clinically important regions of each gene, including coding exons and adjacent intronic sequences. Structural rearrangements, variants in complex regions like short tandem repeats, and non-coding regions are not covered. Variants outside the targeted regions are excluded. Some variants such as those in the promoter regions, non-coding exons, and other non-coding regions are not analyzed unless explicitly stated.
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)