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  • Alternate specimens:
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ATP7A

Alias

DSMAX; MK; MNK; SMAX3

Associated disorders

The ATP7A gene is associated with X-linked Menkes disease (MedGen UID: 44030), occipital horn syndrome (OHS) (MedGen UID: 82793) and distal hereditary motor neuropathy (HMN) (MedGen UID: 335168).

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ATP7A

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Invitae tests that include this gene:

Pathogenic mutations in the ATP7A gene are the only known cause of Menkes disease and occipital horn syndrome and an unknown percentage of distal hereditary motor neuropathy.

The ATP7A gene encodes a transmembrane copper-transporting P-type ATPase that is involved in intracellular copper homeostasis. Copper plays an important role in normal biological function, mainly through the activities of enzymes that require copper as a cofactor for normal function.

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
ATP7A NM_000052.6