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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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ACVRL1

Alias

ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; SKR3; TSR-I

Associated disorders

The ACVRL1 gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 324960) and pulmonary hypertension (MedGen UID: 57749).

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ACVRL1

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Invitae tests that include this gene:

Pathogenic variants in the ACVRL1 gene are a well-known cause of HHT and are responsible for ~25%-57% of HHT diagnoses. ACVRL1 is also a rare cause of pulmonary hypertension.

The ACVRL1 gene encodes activin receptor-like kinase, a cell surface receptor for the TGF-beta family of proteins that are involved in angiogenesis.

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
ACVRL1 NM_000020.2