Invitae 3-Methylcrotonyl-CoA Carboxylase Panel
Use
The Invitae 3-Methylcrotonyl-CoA Carboxylase Deficiency Panel analyzes the two genes associated with 3-Methylcrotonyl-CoA Carboxylase deficiency. This test is useful for diagnosing patients suspected of having 3MCC deficiency based on clinical symptoms, biochemical findings, or abnormal newborn-screening results. 3MCC deficiency shows a wide range of phenotypic severity, often leading to developmental delay, intellectual disability, seizures, hypotonia, etc. Despite these symptoms, over 90% of diagnosed individuals are asymptomatic due to newborn screening. No phenotype-genotype correlations exist, and symptoms in some individuals may have alternative underlying causes.
Special Instructions
Not provided.
Limitations
The assay covers coding exons and adjacent intronic sequences but does not analyze variants outside these regions. Single nucleotide variants, insertions/deletions smaller than 15bp, and exon-level deletions/duplications have >99% sensitivity and specificity. Larger insertions/deletions might have reduced sensitivity. Some structural rearrangements or variants in complex sequence regions may not be detected. Sequence changes in promoters, non-coding exons, and other non-coding regions aren't guaranteed to be covered. Patient's constitutional genome might not be represented due to certain medical conditions.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
MCCC1, MCCC2
Gene
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)
Other tests from different labs that may be relevant