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  • Preferred specimen:
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  • Alternate specimens:
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ADAMTS2

Alias

ADAM-TS2; ADAMTS-2; ADAMTS-3; NPI; PC I-NP; PCI-NP; PCINP; PCPNI; PNPI

Associated disorders

The ADAMTS2 gene is associated with autosomal recessive Ehlers-Danlos syndrome type VIIC (EDS VIIC) (MedGen UID: 397792).

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ADAMTS2

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Invitae tests that include this gene:

Pathogenic variants in ADAMTS2 are a rare cause of clinical cases of EDS.

The ADAMTS2 gene encodes the enzyme procollagen I N-proteinase that removes the N-propeptide from type 1 and type II procollagens. Improper processing of procollagen molecules causes self-assembling and accumulation in tissues, creating abnormal fibrils that are much weaker than normal collagen.

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
ADAMTS2 NM_014244.4