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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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ALDH4A1

Alias

ALDH4; P5CD; P5CDh

Associated disorders

The ALDH4A1 gene is associated with autosomal recessive hyperprolinemia type II (MedGen UID: 78688).

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ALDH4A1

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Invitae tests that include this gene:

Pathogenic variants in the ALDH4A1 gene are the only known cause of hyperprolinemia type II (PMID: 9700195).

The ALDH4A1 gene encode the enzyme ∆1-pyrroline 5-carboxylate dehydrogenase (P5CDh). P5CDh catalyzes the conversion of pyrroline 5-carboxylate (P5C), derived from proline or ornithine metabolism, to glutamate. The reaction is a component of the pathway connecting the urea and tricarboxylic acid cycles (PMID: 9700195).

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
ALDH4A1 NM_003748.3