Invitae Elevated C0/(C16+C18) Test
Use
Carnitine palmitoyltransferase I (CPT1) deficiency leads to elevated C0/(C16+C18) acylcarnitine ratio detectable on newborn screening or plasma acylcarnitine analysis. It typically presents in early childhood with hypoketotic hypoglycemia and hepatic encephalopathy during illness or fasting. Early diagnosis can potentially prevent attacks and improve long-term outcomes. CPT1 deficiency in pregnant women may lead to acute fatty liver. Genetic testing of the CPT1A gene may confirm diagnosis and guide treatment.
Special Instructions
This test analyzes the CPT1A gene. Preferred specimen is 3mL of whole blood in a purple-top EDTA tube; alternate specimens include saliva, buccal swab, and genomic DNA (gDNA). Contact client services for any questions related to this test and for specimen collection kits.
Limitations
The assay achieves >99% sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp. Larger insertions/deletions and certain structural rearrangements may not be detected. The analysis covers coding exons and select non-coding variants, but not promoter or other non-coding regions unless explicitly guaranteed. Mosaicisms or mapping ambiguities might not be resolved.
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)