• 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
  • Sample requirements
  • Request a sample kit



PAM18; TIM14; TIMM14

Associated disorders

The DNAJC19 gene is associated with autosomal recessive 3-Methylglutaconic aciduria, type V (MedGen UID: 347542).

Pathogenic DNAJC19 variants are associated with an unknown percentage of clinical cases of 3-Methylglutaconic aciduria, type V.

The DNAJC19- gene encodes the DnaJ heat shock protein family (Hsp40) member C19 protein. This protein is a constituent of the mitochondrial import motor, that is required for proper protein trafficking from the cytosol to the mitochondria.

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, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

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
DNAJC19 NM_145261.3