Menkes Disease

Menkes Disease
Sequencing of the ATP7A gene 

Genes: ATP7A

Lab method: Sanger sequencing

Price / TAT: 1030 EUR / 2-4 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the ATP7A gene

Genes: ATP7A

Lab method: MLPA

Price / TAT: 310 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Carrier testing for at-risk family members
3. Genetic counseling
4. Prenatal diagnosis for known familial mutation

Menkes disease is a disorder of copper metabolism characterized by growth failure, developmental delay and progressive neurodegeneration. Patients with Menkes disease may also present hair changes (short, sparse, coarse, twisted hair, and colorless or steel-colored), hypothermia, hypoglycemia, hypotonia, and seizures. Onset of Menkes disease typically begins in the neonatal period.

Menkes disease is caused by mutations in the ATP7A gene. The disorder is inherited in an X-linked recessive pattern.

The incidence of Menkes disease is estimated to be 1 in 100,000 to 360,000 newborns.

Charcot-Marie-Tooth Disease and Menkes Disease tests now available

As we highly appreciate our customers’ feedback on our services, we have added two new tests to the testing menu based on the results of the resent customer survey. The Charcot-Marie-Tooth Disease test uses massively parallel sequencing to analyze as many as 30 disease-associated genes. This approach allows distinguishing various forms of the disease and therefore preventing serial single gene testing. Deletion/duplication analysis of the PMP22 gene in the 17p11.2-12 region is also available. The duplications in this region could account for approximately 75 % of cases.

For Menkes disease testing we use Sanger sequencing to detect disease-causing mutations in the ATP7A gene.