ABCR gene testing

Stargardt disease, cone-rod dystrophy

Genetic variations in the ABCR gene have been associated with several retinal phenotypes, including Stargardt disease/fundus flavimaculatus, cone-rod dystrophy.

Asper Biotech, together with its partners, has developed a mutation detection test for the ABCR (ABCA4) gene, which includes most currently known (519) mutations in the ABCA4 gene.
  


Nucleotide change G>A in position 5882 of ABCR gene exon 42 analyzed by APEX. The signals corresponding to A in the sense strand and T in the antisense strand are indicative for mutation. The mutation causes amino acid change G1961E.

Requirements for DNA samples

• DNA quality needs to be ensured (an agarose-gel image from the high molecular weight DNA should be provided with the DNA samples)
• 3 mg of genomic DNA is required for ABCR chip analysis 
• Preferred concentration range of the DNA is 100-250 ng/ul 
• DNA samples should be provided in pure sterile water 

Requirements for blood samples 

• Collect 2-4 ml of whole blood to a lavender-cap vacutainer (EDTA)K3. Do not use heparin as an anticoagulant. Make sure the anticoagulant and blood are mixed - do not shake!

• Blood samples can be preserved at 2-8C, but for no longer than one week. Do not freeze the blood!

• Labelling on the blood sample and on the submission form should be identical.

• Blood samples must be packed so that tubes do not get damaged during shipment.

• For special requirements for sending Guthrie cards and saliva samples contact your Asper sales specialist.

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
         Vaksali 17a
         Tartu 50410
         Estonia
         Ph: +372 7307 295 

• Please fill in the 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@asperophthalmics.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, if available. 

• 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

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

For further information

1. Please contact info@asperophthalmics.com
2. ABCR genetic test (pdf)
3. Payment details

Publications

1. Genotyping Microarray (Gene Chip) for the ABCR (ABCA4) Gene
K. Jaakson, J. Zernant, M. Kulm, A. Hutchinson, N. Tonisson, D. Glavac¡, M. Ravnik-Glavac¡, M. Hawlina, M.R. Meltzer, R.C. Caruso, F. Testa, A. Maugeri, C.B. Hoyng, P. Gouras, F. Simonelli, R.A. Lewis, J.R. Lupski, F.P.M. Cremers, and R. Allikmets
Hum Mutat 22:395–403, 2003.

2. Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. 
Klevering BJ, Yzer S, Rohrschneider K, Zonneveld M, Allikmets R, van den Born LI, Maugeri A, Hoyng CB, Cremers FP.
European Journal of Human Genetics (2004) 12, 1024–1032.

3. Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele
Diana Valverde, R. Riveiro-Alvarez, Sara Bernal, Kaie Jaakson, Montserrat Baiget, Rafael Navarro, Carmen Ayuso
Molecular Vision 2006; 12:902-908