WILSON DISEASE GENETIC TESTING

Asper Biotech has developed a robust, cost-effective, and easily modifiable test with 87 mutation sites and 17 polymorphisms suitable for the screening of ATP7B mutations in Wilson disease patients.

An extensive series of validations have been performed to prove the performance of the APEX based detection of the ATP7B. All screened sequence variants were detected with 100% accuracy. Our scientific partners in developing this test are from the University of Brno, Czech Republic, an article co-authored by our scientist Maigi Külm was published in the Clinical Genetics journal (see reference below).

Mutation H1069Q of human gene ATP7B analyzed by APEX. 
In case of the normal allele we will expect signals for sense oligo in C channel and for antisense oligo G channel (C/G). In case of the mutant allele we will detect signals for sense oligo in A channel and for antisense oligo in T channel (A/T).

References

1. Gojova L, Jansova E, Külm M, Pouchla S, Kozak L. , Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease, Clin Genet. 2008 May; 73(5): 441- 52

Requirements for the DNA samples

• the quality of the DNA needs to be ensured
• 2 mg of genomic DNA is required for Wilson Disease chip analysis
• Preferred concentration range of the DNA is 100-250 ng/ul
• DNA samples to be solved in pure sterile water

DNA sample submitting 

• For speedy and secure delivery, international courier services, for example DHL, UPS and FedEx, are recommended; alternatively, you can send samples by air mail as a small parcel. 

• Since high quality DNA samples are stable, there is no need for shipment on dry or wet ice.
  Care should be taken to avoid drying out; please use either screw cap tubes or wrap the caps of each Eppendorf tube with parafilm. 

• In order to avoid damage to the tubes during shipment, a tube storage box made of plastic or cardboard, and doubling it with a padded envelope, is recommended. Please avoid using round containers, such as 50 ml Corning tubes, for tube protection. 

• Send samples to the following address:
         Asper Biotech
         Oru 3
         Tartu 51014
         Estonia
         Ph: +372 7 441 556 

• Please fill in the DNA sample submission form, which improves and accelerates the handling of DNA samples submitted to Asper and include it in the package as you ship samples. Download the form in Microsoft Word or Adobe Acrobat (pdf) format. 

• Notify us by email (info@asperbio.com, or the respective project manager), including the number of samples, which test is to be performed, and shipment tracking data).

• Enclose in the package the list of samples, which test is to be performed and DNA quality data. 

• Please make sure that the declared value for the package in the shipment documents does not exceed 10 EUR (USD).

Additional services

Additional verification by DNA Sequencing
To confirm the results with secondary method, Asper provides verification of the APEX findings by dideoxy sequencing. Sequencing will be performed under strict quality control regulations by professionally trained personnel on Applied Biosystems 3130 Genetic Analyzer.
Hard copies of the reports on official blank
Asper can provide the formatted results on company’s official letter blank upon request. The hard copy will be signed and sealed by head of the lab and sent out by registered mail. 
Storage of DNA samples at Asper's DNA bank
Asper always performs the screening with as limited amount of DNA as possible. If there will be enough remained DNA; it can be storaged in Asper’s DNA bank. The DNA can be used for further analysis by other tests or just for re-screening. The amount of remained DNA will be measured and report will be sent to partner. The data of DNA samples will be recorded in our laboratory information system and stored under strict quality controlled manner. 
Returning of DNA samples
The remained DNA can be also sent back to partners either by regular mail or by courier.  

Turnaround Time

Standard delivery – The results will be delivered approximately in 3 – 6 weeks after the arrival of  samples.
Express delivery – The results will be delivered in 3 – 5  working days from the arrival of samples. Please note that the cost of the express delivery differs from the standard delivery. 

For further information
Payment details
Please contact info@asperbio.com 
Wilson disease test brochure (pdf, 224 kb)