3-Methylcrotonyl-CoA Carboxylase Deficiency Panel
Use
This test is intended for individuals who have features consistent with 3-methylcrotonyl-CoA carboxylase deficiency or who have abnormal screening results indicating elevated levels of 3-hydroxyisovalerylcarnitine (C5-OH). It is also useful for those with abnormal biochemical findings such as increased urinary 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, alongside elevated C5-OH levels in blood and urine.
Special Instructions
Testing can be performed using the Exome or Genome Platform. It is crucial to include thorough clinical notes and a pedigree for accurate interpretation, as the ability to interpret variants correlates directly with the quality of provided clinical information.
Limitations
This test may not be able to detect all types of mutations associated with 3-methylcrotonyl-CoA carboxylase deficiency. False negatives may occur if a mutation is not present in the genes included in this panel or if a mutation type not detected by NGS technologies is present. Given technological limitations, variants in regulatory regions or those not within defined gene coverage may not be detected.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided