ATP7A-Related Copper Transport Disorders (ATP7A), Sequencing
Ordering Recommendation

Acceptable test to confirm diagnosis of Menkes disease, occipital horn syndrome, or ATP7A-related distal motor neuropathy. Detects most pathogenic ATP7A gene variants but does not detect deletions or duplications.

Polymerase Chain Reaction/Sequencing
21-28 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for ATP7A-Related Copper Transport Disorders, Sequencing
Menkes disease, occipital horn syndrome, and ATP7A-related distal motor neuropathy are disorders of copper transport due to mutations in the ATP7A gene. Individuals with Menkes disease may present in the infant period with loss of milestones, abnormal hair, lethargy, hypotonia, and seizures. Occipital horn syndrome shares many features with Menkes disease but has a less severe neurological phenotype.
Incidenceof ATP7A-Related Copper Transport Disorders: About 1 in 100,000.
Inheritance: X-linked.
Cause: Pathogenic ATP7A mutations.
Clinical Sensitivity:
80 percent for Menkes disease and occipital horn syndrome; unknown for ATP7A-related distal motor neuropathy.
Methodology: Bidirectional sequencing of all coding regions and intron-exon boundaries of the ATP7A gene.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Component Test Code*Component Chart NameLOINC
2007873ATP7A Sequencing Specimen31208-2
2007874ATP7A Sequencing Interpretation34659-3
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • ATP7A sequencing testing
  • Copper transport disorders sequencing assay