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    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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GDF1

Alias

DORV; DTGA3; RAI

Associated disorders

The GDF1 gene is associated with autosomal recessive heterotaxy (PMID: 20413652). Additionally, the GDF gene has preliminary evidence supporting a correlation with autosomal dominant congenital heart defects (PMID: 17924340).

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GDF1

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Invitae tests that include this gene:

Growth and differentiation factors provide important signals for setting up the body plan in the early embryo. The Nodal signaling cascade is responsible for establishing the left-right body axis. The GDF1 gene encodes a soluble growth factor that, in addition to Nodal itself, establishes normal left-right asymmetry by activating this cascade. Mutations in this gene block signaling and lead to visceral malrotation and cardiac malformations.

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
GDF1 NM_001492.5