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ATP7A-Related Copper Transporter Disorders (ATP7A) Deletion/Duplication (INACTIVE as of 05/15/17: Refer to 2008471)
2008443
Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.

Mnemonic
ATP7A DD
Methodology
Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 14 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
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for ATP7A-Related Copper Transport Disorders, Deletion/Duplication
Characteristics:
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 infancy 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.
Incidence
of ATP7A-Related Copper Transport Disorders: About 1 in 100,000.
Inheritance:
X-linked.
Cause:
Pathogenic ATP7A mutations.
Clinical Sensitivity:
15 percent for Menkes disease and occipital horn syndrome; unknown for ATP7A-related distal motor neuropathy.
Methodology:
Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large ATP7A deletions/duplications.
Analytical Sensitivity and Specificity
: 99 percent and 95 percent.
Limitations
: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, single base pair substitutions, and small deletions/duplications will not be identified. The breakpoints of large deletions/duplications will not be determined. Mutations in genes other than ATP7A 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.

Components
Component Test Code*Component Chart NameLOINC
2008444ATP7A DelDup Specimen31208-2
2008445ATP7A DelDup Interp34659-3
* 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.
Aliases
  • ATP7A deletion/duplication assay
  • Copper transport disorders deletion/duplication assay