Menkes Disease
Sequencing of the ATP7A gene 

Genes
(full coding
region):		 ATP7A
Lab method: NGS
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
TAT: 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.