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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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DDHD1

Alias

PA-PLA1; PAPLA1; SPG28

Associated disorders

The DDHD1 gene is associated with autosomal recessive hereditary spastic paraplegia 28 (SPG28) (MedGen UID: 332174).

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DDHD1

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Invitae tests that include this gene:

DDHD1 is a rare cause of hereditary spastic paraplegia, and the percentage of HSP attributed to pathogenic variants identified in DDHD1 is unknown.

DDHD1 encodes the DDHD domain-containing protein 1, a phospholipase that has been shown to metabolize phosphatidic acid, a signaling molecule involved in many pathways. DDHD1 has been reported to be expressed in the central nervous system and, in other cell types, has been shown to regulate mitochondrial dynamics.

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
DDHD1 NM_001160147.1