• Test code: 06202
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit

Invitae Copper Metabolism Disorders Panel

Test description

The Invitae Copper Metabolism Disorders panel analyzes genes associated with copper transport diseases. This panel may be appropriate for individuals with signs and symptoms of a copper transport disease. Genetic testing of these genes may confirm a diagnosis, help guide treatment and management decisions, and provide adequate genetic counseling. Identification of disease-causing variants provide accurate risk assessment and determine carrier status in at-risk relatives.

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Primary panel (10 genes)


  • MEDNIK syndrome
  • ATP6AP1 deficiency
  • ATP6AP2-related conditions:
    • X-linked intellectual disability with epilepsy (MRXE)
    • Glycosylation disorder with immunodeficiency, liver disease, psychomotor impairment and cutis laxa (GILPC)
  • Menkes disease (MD), Occipital Horn syndrome (OHS), Charcot-Marie-Tooth distal hereditary motor neuropathy
  • Wilson disease
  • Congenital disorder of glycosylation type IIo (CDG2O)
  • Aceruloplasminemia
  • PGM1-congenital disorder of glycosylation (CDG-1t)
  • Huppke-Brendel syndrome (HBS) (Congenital cataracts, hearing loss, and neurodegeneration)
  • TMEM199-congenital disorder of glycosylation (TMEM199-CDG, CDG-IIp)

To view the complete clinical description of this panel, click here.

All of the copper transport disorders follow autosomal recessive inheritance, except the APT7A-related conditions (Menkes disease, Occipital Horn syndrome, ATP7A-related distal motor neuropathy). These conditions are X-linked.

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 and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
AP1S1 NM_001283.3
ATP6AP1 NM_001183.5
ATP6AP2 NM_005765.2
ATP7A NM_000052.6
ATP7B NM_000053.3
CCDC115 NM_032357.3
CP NM_000096.3
PGM1* NM_002633.2
SLC33A1 NM_004733.3
TMEM199 NM_152464.2

PGM1: Deletion/duplication analysis is not offered for exon 11.