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    10–21 calendar days (14 days on average)
  • Preferred specimen:
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  • Alternate specimens:
    DNA or saliva/assisted saliva
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PRDM16

Alias

CMD1LL; LVNC8; MEL1; PFM13

Associated disorders

The PRDM16 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant left ventricular noncompaction (LVNC) (MedGen UID: 349005) and dilated cardiomyopathy (DCM) (OMIM: 615373).

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PRDM16

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Invitae tests that include this gene:

Pathogenic PRDM16 variants are associated with an unknown percentage of clinical cases of LVNC and DCM.

The PRDM16 gene encodes a transcription factor that has been described to have a regulatory role in the TGF-beta signalling pathway.

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
PRDM16 NM_022114.3