Invitae Methylmalonic Acidemia and Homocystinuria Panel
Use
The Invitae Methylmalonic Acidemia and Homocystinuria Panel is designed for diagnosing patients suspected of having methylmalonic aciduria, homocystinuria, or combined defects of cobalamin metabolism. The test involves analyzing genes associated with elevations of methylmalonic acid and/or homocysteine, and is useful for diagnosing metabolic disorders linked to these biochemical abnormalities. Given the genetic heterogeneity of methylmalonic acidemias and homocystinuria, this broad panel efficiently evaluates multiple potentially relevant genes based on a single clinical indication.
Special Instructions
Preferred specimen is whole blood in a purple-top EDTA tube. Alternate specimens include saliva, buccal swab, and gDNA. Contact Invitae for more details regarding specimen collection kits and procedures. New York approved.
Limitations
The test uses next-generation sequencing to achieve high analytical sensitivity and specificity. Variants such as structural rearrangements or those in complex genomic regions may not be detected. The test does not guarantee coverage of sequence changes in promoters or specified non-coding regions. Analytical sensitivity may be marginally reduced for insertions and deletions larger than 15bp but smaller than a full exon.
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)