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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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ALDH7A1

Alias

ATQ1; EPD; PDE

Associated disorders

The ALDH7A1 gene is associated with autosomal recessive pyridoxine-dependent epilepsy (MedGen UID: 340341).

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ALDH7A1

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Invitae tests that include this gene:

Pathogenic variants in the ALDH7A1 gene are associated with 80-90% of clinical cases of pyridoxine-dependent epilepsy.

The ALDH7A1 encodes the enzyme α-aminoadipic semialdehyde dehydrogenase also known as antiquitin. It is a member of the aldehyde dehydrogenase gene family and provides instructions for producing enzymes that change aldehydes. ALDH7A1 is involved in breaking down lysine in the brain, which is necessary for energy production and producing other required molecules (PMID: 21338592, 20554659).

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
ALDH7A1 NM_001182.4