Invitae Elevated C4 and C5 (Multiple Acyl-CoA Dehydrogenase deficiency) Panel
Use
The Invitae Elevated C4 and C5 Panel analyzes genes associated with simultaneous elevations of C4 and C5 acylcarnitines on newborn screening (NBS) or acylcarnitine analysis, often indicative of multiple acyl-CoA dehydrogenase deficiency (MADD). Genetic testing of these genes may confirm a diagnosis and guide treatment and management decisions.
Special Instructions
The test can be customized by removing genes and is New York approved. A specimen collection kit can be requested for alternative specimen types, including saliva, buccal swab, and gDNA.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. It is unable to detect structural rearrangements, variants in complex sequences like short tandem repeats, and some non-coding region changes. It may also have limited ability to determine mosaicism, phasing, or mapping ambiguity.
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)