Adventia – Duchenne and Becker muscular dystrophies

General Information

Adventia – Duchenne muscular dystrophy

Duchenne muscular dystrophy and Becker muscular dystrophy are rare inherited muscle diseases characterized by progressive muscle weakness and degeneration that leads to difficulty walking and shortens life expectancy.

Both of them are monogenic disorders

The study is performed by the MLPA method to detect small deletions and duplications.

The mutation detection rate exceeds 75%.

Sampling for research will be done:

• In the regions: on Wednesday   
• In Tbilisi: on Wednesday and/or Thursday (in the first half of the day)

Samples will be shipped on Thursday afternoons! For this, the sample must be sent to the central laboratory before 12:00 on Thursday

The taken sample is sent and the research is conducted in the laboratory of MEDICOVER Genetics in a laboratory with international accreditation.

Test results are available within 20 working days of sampling. The answer will be sent to the E-mail address of the doctor and the patient. at the post office. It is also possible to receive on-site laboratory center.

If necessary, Synevo Laboratory offers a consultation with a geneticist.  

Instructions for use

The sample collection and transport kit is intended for the collection, transport and storage of material required for genetic research, according to the specified procedure.

Security measures

• For In Vitro Diagnostic Use.
• Buccal swab collection devices are intended for single use by one person.
• Store the kit at room temperature (15°C to 25°C). Properly stored kits are stable until the expiration date.
• Do not use an expired kit.
• Do not freeze collected samples.

Important information

• The buccal mucosa sample should be collected immediately after opening the package.
• Do not bend the swab with excessive force when collecting a patient sample, as this may cause the swab to break.
• 30 minutes before sample collection, the patient is prohibited from: smoking, taking food and liquids (except water), brushing teeth and chewing gum
• Please follow the instructions for specimen labelling, collection and transport carefully.
• Check that all patient identification data is correct and compliant before specimen packaging and shipping

Product content

Sample collection Device: Two (2) buccal swab collection devices

Packaging materials: One (1) biosecurity bag to seal the specimen

Documentation:

1. One (1) barcode card with three (3) labels
2. Sample fill-in form with QR code on buffered envelope
3. Informed consent – ​​in a sample form

Sample collection instructions

1. Fill out the sample form. A completed and signed copy of the form must be sent with the sample.
2. Complete the patient's first and last name on the barcode label ending with BS1 and BS2 and affix it to the cheek swab collection device. Attach the remaining barcode label to the form to be filled.
3. Using gloves, open the pouch and remove the buccal swab collection device.
4. To easily open the cap of the tube, hold the swab of the plastic tube with one hand and press the white cap with your thumb.
5. Hold the swab by the handle (white cap), remove the swab from the plastic tube and place the tube on a clean surface.
6. Place the swab in your mouth on your tongue and wet it with saliva for ten seconds.
7. Move the swab on one side of the mouth between the cheek and gums in an up-down direction for 10 seconds. At the same time, massage the outside of the cheek with the other hand to increase the friction of the tampon with the mucous membrane.
8. Repeat the sequence of point 7 on the other side of the mouth.
9. After taking the sample, put the swab back into the plastic tube and close it securely.
10. Place the sample in a biosafety bag and seal securely. Repeat the same procedure with the smear sample of the other cheek.
11. Place the sealed bag in a buffered envelope.
12. Remove the cover from the adhesive strip of the envelope and seal the envelope

Order details and support

For assistance or to order additional kits, please call +(995)32 2 800 111 or email us at info@synevo.ge. Additional information is available online at Synevo.ge