Invitae Elevated Methionine Panel
Use
The Invitae Elevated Methionine Panel analyzes genes associated with elevated methionine on newborn screening or plasma amino acid analysis. This genetic testing can confirm a diagnosis and guide treatment and management decisions. Identification of disease-causing variants provides accurate risk assessment and carrier status for at-risk relatives. The clinical presentation of related disorders varies widely but may include early-onset seizures, developmental delays, myopathy, and liver dysfunction.
Special Instructions
The test is New York approved and has a turnaround time ranging from 10 to 21 calendar days, with an average of 14 days. Preferred specimen collection is 3mL whole blood in a purple-top EDTA tube, but saliva, buccal swab, and gDNA are also acceptable alternatives. The test can be customized by selecting or deselecting specific genes.
Limitations
The assay utilizes next-generation sequencing to analyze clinically important regions of each gene, including coding exons and adjacent intronic sequences. Limitations include potential reduced sensitivity for larger insertions and deletions, as well as the inability to detect structural rearrangements or certain detailed genomic features such as mosaicism. Some non-coding regions beyond the selected areas are not covered, and single exon copy number events may occasionally remain unanalyzed.
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)