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  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
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CPT1C

Alias

CATL1; CPT1-B; CPT1P; CPTI-B; CPTIC; SPG73

Associated disorders

The CPT1C gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant spastic paraplegia 73 (SPG73) (MedGen UID: 833082).

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CPT1C

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Invitae tests that include this gene:

The CPT1C gene encodes a neuronal protein that is a member of the carnitine/choline acetyltransferase family. These proteins regulate lipid metabolism and energy homeostasis in the cell. Whereas other protein members of thIs family localize to the mitochondria, CPT1C is found in the endoplasmic reticulum and might have lower catalytic activity.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
CPT1C NM_001136052.2