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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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ADSL

Alias

AMPS; ASASE; ASL

Associated disorders

The ADSL gene is associated with autosomal recessive adenylosuccinate lyase (ADSL) deficiency (MedGen UID: 78641). Up to 6% of affected individuals have a pathogenic variant in the promoter region not currently included in this assay (PMID: 25112391, 12016589).

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ADSL

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Invitae tests that include this gene:

Pathogenic variant in ADSL are associated with 100% of clinical cases of adenylosuccinate lyase deficiency, a rare cause of clinical cases of epilepsy.

The ADSL gene encodes an enzyme that participates in the synthesis of purines, a group of molecules important for a variety of cellular functions including energy production, DNA replication, and transcription (PMID: 23622405).

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
ADSL NM_000026.2