Invitae Elevated C4-OH Test
Use
The Invitae Elevated C4-OH Test analyzes the HADH and HIBCH genes, which are associated with elevations of C4-OH acylcarnitine on newborn screening (NBS) or plasma acylcarnitine analysis. Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions. Early diagnosis and detection may improve the long-term outcome of these patients and may prevent sudden death. Patients are responsive to diazoxide therapy.
Special Instructions
Patients suspected of having this rare metabolic disorder need immediate evaluation, as periods of illness, fever, and fasting may lead to serious decompensation and sudden death. Turnaround time is approximately 14 days on average. New York approved: Yes.
Limitations
The test has >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp, and exon-level deletions and duplications. Sensitivity for larger insertions and deletions may be marginally reduced. Certain structural rearrangements and variants in complex sequences may not be detected. Sequencing changes in promoter, non-coding exons, and non-coding regions are not covered unless guaranteed.
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)