Invitae Elevated C6, C8 and C10 (MCAD deficiency) Test
Use
The Invitae Elevated C6, C8 and C10 (MCAD deficiency) Test analyzes the ACADM gene, associated with medium chain acyl-CoA dehydrogenase deficiency. This deficiency affects mitochondrial beta oxidation of fatty acids and can cause severe metabolic crises, presenting typically in early childhood. Genetic testing aids in the confirmation of a diagnosis and guides treatment to prevent complications such as extreme hypoglycemia and potentially fatal metabolic decompensation. The assay achieves high sensitivity and specificity for relevant genetic variants.
Special Instructions
The test requires submission of appropriate specimens, such as whole blood, saliva, buccal swab, or gDNA. It is critical for early diagnosis and management to improve outcomes, including dietary management with low-fat, high-carbohydrate diets and emergency protocols during illness. Invitae offers support for coordinating specimen collection and further inquiries about the assay's analytical coverage and limitations.
Limitations
The test may not detect structural rearrangements or single-exon events due to complex sequence architectures. It might not resolve mosaicism, phasing, or mapping ambiguities. Sensitivity for large insertions/deletions may be slightly reduced. Non-coding regions, including promoter regions, are generally not covered unless explicitly specified. Environmental factors such as recent transfusions or bone marrow transplants could affect DNA representation.
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)