Achromatopsia NGS panel

Achromatopsia NGS panel

Genes: ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H

List of diseases covered by the panel


Lab method: NGS panel with CNV analysis

TAT: 6-9 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

Genetic testing in Hungary

The goal is to offer the country’s eye doctors and other specialists the wide portfolio of Asper’s test. Currently working in close collaboration with Optovision Ltd. Asper Biotech has the goal of reaching the Hungarian eye doctors offering them diagnostics solutions that are enhanced by our partner’s advancing knowledge in eye disease genetics. Co-operation with internet medicine network and wide partner network enables to reach the goals quickly and efficiently bringing on stronger brand presence for Asper and a comprehensive medical product market for Optovision.

Optovision is widening its network of clinics and doctors over all medical areas that Asper’s tests cover.

Supportive services

Flexible approach to gene panels

In diagnosing complex disorders, it may be necessary to use wider range of genes than initially determined, or combine different gene panels. We can easily redesign our existing gene panels to match your clinical practice or research project. Additional fee will not be added. Contact info[at]asperbio.com to ask for personal solutions.

Pre- and post-test consultation by email/phone/Skype

Medical geneticist is available for pre- and post-test consultation (60 €) to referring physicians and health-care professionals. Contact info[at]asperbio.com to register for consultation.

Shipment of samples

Shipment of the samples

For speedy and secure delivery, international courier services such as 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 in dry or wet ice.
  • To avoid sample loss and contamination, please use 0,5-2,0 ml screw cap tubes, tubes with safe lock lid or wrap the caps of each microtube with parafilm.
  • In order to avoid damage to the tubes during shipment, a tube storage box made of plastic or cardboard in a padded envelope is recommended. Please avoid using round containers, such as 50 ml Corning tubes, for tube protection.
  • Send blood samples by courier service. Blood samples can be preserved at 2-8°C before shipping. Blood samples are recommended not to freeze and not to store longer than one week.
  • Please make sure that the declared value of the package in the shipment does not exceed 10 EUR.
  • Send samples to the following address:
    Asper Biogene
    Vaksali 17a
    Tartu 50410
    Estonia
    Ph: +372 7307 295
  • You will be notified by email, once the samples arrive at Asper Biogene.

Payment

Invoicing

Clients receive a service invoice when samples arrive at Asper Biogene, unless it is agreed otherwise.

The invoice is sent by email. Should your accounting department need a signed invoice, please notify Asper Biogene, and the signed invoice will be sent via airmail or fax as per your instructions.

Please indicate the invoice number in payment details.

Payment options:

A bank transfer is the preferred way to process invoices. PayPal payments also available, please contact info[at]asperbio.com

Bank details:

Asper Biogene
Vaksali 17a, 50410 Tartu, Estonia
Bank: LHV Pank, Tartu mnt 2, Tallinn, Eesti
SWIFT: LHVBEE22
IBAN: EE387700771002617995