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Menkes Disease and Hereditary Motor Neuropathy via the ATP7A Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
ATP7A 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4883ATP7A81479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Maxime Cadieux-Dion, PhD

Clinical Features and Genetics

Clinical Features

Menkes disease (MNK, OMIM 309400) is an X-linked multisystemic disorder of copper metabolism. Three variants of MNK are recognized.

1) Classic MNK is the most common and most severe variant. It is characterized by kinky hair, pili torti, hypopigmentation, loose skin, failure to thrive, progressive neurodegeneration, and loss of previously developed skills. Symptoms begin in infancy and death occurs in early childhood.

2) Intermediate MNK is characterized by mild development delay, cerebellar ataxia, later onset, and longer survival (Danks et al. Am J Med Genet 30:859-864, 1988).

3) Occipital horn syndrome (OHS, OMIM 304150) is the mildest variant with survival into adulthood. It is distinguished by occipital exostoses on radiographs. OHS is mainly a connective-tissue disorder. Symptoms include recurrent bladder rupture, cutis laxa, and musculoskeletal abnormalities (Lazoff Birth Defects 11:71-74, 1975). To date, MNK disease has been reported in eight female patients (Sirleto et al. Pediatr Res 65:347-351, 2009).

ATP7A-related distal hereditary motor neuropathy (HMN, OMIM 300489) is clinically heterogeneous. Typical features include distal wasting and weakness, reduced compound muscle action potential with decreased motor conduction velocity, minimal or no sensory involvement, and X-linked inheritance (Kennerson et al. Am J Hum Genet 86:343-352, 2010).


All variants of MNK disease result from variants in the ATP7A gene, located on the X chromosome (Vulpe et al. Nat Genet 3:7-13, 1993; Chelly et al. Nat Genet 3:14-19, 1993; Das et al. Am J Hum Genet 56:570-576, 1995). Over 170 ATP7A variants have been reported and included most types. Large deletions account for ~ 10% of patients with documented variants (Kaler, GeneReviews, 2010 at www.genetests.org) and appear to result in the classic MNK disease (Tümer et al. Hum Mutat 22:457-464, 2003). However, clear genotype-phenotype correlations have not been established. In addition to MNK disease, two ATP7A missense variants have been recently reported in patients with HMN (Kennerson et al. Am J Hum Genet 86:343-352, 2010).

Clinical Sensitivity - Sequencing with CNV PG-Select

This test detects variants in about 80% of males affected with MNK and female carriers (Kaler, GeneReviews, 2010).

Testing Strategy

This test provides full coverage of all coding exons of the ATP7A gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

1. Male patients with symptoms suggestive of MNK disease or decreased serum copper and ceruloplasmin levels, as well as female carriers.

2. Male patients with X-linked HMN and female carriers.


Official Gene Symbol OMIM ID
ATP7A 300011
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Distal Hereditary Motor Neuropathy Panel


  • Chelly, J., et.al. (1993). "Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein." Nat Genet 3(1): 14-9. PubMed ID: 8490646
  • Danks, D. M. (1988). "The mild form of Menkes disease: progress report on the original case." Am J Med Genet 30(3): 859-64. PubMed ID: 3189408
  • Das, S., et.al. (1995). "Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse." Am J Hum Genet 56(3): 570-6. PubMed ID: 7887410
  • Kaler, Stephen G (2010). "ATP7A-Related Copper Transport Disorders." PubMed ID: 20301586
  • Kennerson, M. L., et.al. (2010). "Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy." Am J Hum Genet 86(3): 343-52. PubMed ID: 20170900
  • Lazoff, S. G., et.al. (1975). "Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy- a new hereditary syndrome." Birth Defects Orig Artic Ser 11(5): 71-4. PubMed ID: 1218238
  • Sirleto, P., et.al. (2009). "Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease." Pediatr Res 65(3): 347-51. PubMed ID: 19092723
  • Tumer, Z., et.al. (2003). "Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A." Hum Mutat 22(6): 457-64. PubMed ID: 14635105
  • Vulpe, C., et.al. (1993). "Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase." Nat Genet 3(1): 7-13. PubMed ID: 8490659


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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