When should genetic disease carrier screening be performed?

Name: Adventia - α thalassemia
Brand: სინევო
SKU: GEN-AD001MG
Price: 1240 GEL
Availability: InStock
Rating: 5 (1 reviews)

Screening for genetic disease carriers is recommended. When planning a family , especially when the couple has Family history of genetic diseases , Current or planned pregnancy , or is used Reproductive technologies in order to identify hereditary risks in a timely manner and plan prevention and treatment properly.

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Adventia – α thalassemia

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Known as: Adventia α-Thalassemia carrier screening

SKU: GEN-AD001MG

₾1,240.00

Research material: buccal mucosa smear

Response time (working day): 20

The test is done on an empty stomach: no

Home call service: Yes

Country: EU

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General Information

Adventia – alpha thalassemia

Sampling for research will be done:

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

Samples will be sent on Friday afternoon! For this, the sample must be sent to the central laboratory by Friday 12:00.

The taken sample is sent and the research is conducted in the laboratory of MEDICOVER Geneticsin 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.

For the interpretation of the research results, the Synevo laboratory offers a free consultation with a geneticist from MEDICOVER Genetics.

Adventia is a new generation genetic test that determines whether a phenotypically healthy person is a carrier of a genetic disease.

Adventia allows diagnostics of autosomal and X-linked recessive disease. Carriers of recessive diseases have one healthy gene and one gene with a mutation.

The information obtained from the Adventia genetic test helps us make reproductive decisions and minimizes the number of people who can pass on genetic diseases to their offspring.

ADVENTIA alpha thalassemia The focus panel examines the HBA gene cluster (HBZ, HBM, HBA1, HBA2, HBQ1) and its HS-40 regulatory region.

The study is performed by the MLPA method to detect small deletions and duplications. The same MLPA method is used to detect the hemoglobin variant - Constant Spring Mutation.

The mutation detection rate exceeds >90%.

Thalassemia

Note: Alpha thalassemia research is being conducted as part of the ADVENTIA base and full panels Target Capture Enrichment technology, a new generation sequencing method.

genes

HBA

When should we take the test?

Any person can be a carrier of a particular mutation (mutation - a permanent change in the nucleotide sequence of DNA). Some mutations have no effect on human health, while others cause genetic diseases. When a person is a carrier of a specific gene mutation, but this mutation is not strong enough to cause the disease in the individual - this is a carrier of a recessive gene for the disease. If both parents are carriers of the same gene mutation and their child inherits this mutation from both of them, the child will be affected. Carriers of recessive gene mutations are asymptomatic, therefore the individual has no information about the risk of transmitting this mutation to their offspring.
A number of recessive disease genes may be transmitted from generation to generation without symptoms.

Early knowledge of carrier status and the risk of passing on genetic disorders to children makes it possible to:
- Making appropriate decisions by assessing the patient's reproductive risks
- Organization of early intervention and treatment - in cases where the developed disease allows for this.
- Optimizing the clinical management of the sick child
According to the recommendation of international organizations, information about pregnancy screening should be available to all pregnant women; Simultaneous screening for multiple conditions is recommended.

Possible interpretation of the results

Research confirms or excludes Alpha-thalassemia carrier

This is especially important in cases where both parents may be carriers of alpha-thalassemia, as the risk of developing severe forms of the disease in the fetus increases at this time.

Who is it for? intended for Adventia?

For couples who are planning to start a family and want to have information about their pregnancy status.
For any individual or couple seeking Assisted Reproductive Technologies, including In Vitro Fertilization.
For sperm and egg donors and recipients.
For couples who are expecting a child and want to know if their child is at risk of a genetic disorder
For population groups at high risk of specific disorders
For people with a family history of genetic mutations
For anyone who wants to know more about their genetic profile

Reference values

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.
60 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:

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

Sample collection instructions

Fill out the sample form. A completed and signed copy of the form must be sent with the sample.
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.
Using gloves, open the pouch and remove the buccal swab collection device.
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.
Hold the swab by the handle (white cap), remove the swab from the plastic tube and place the tube on a clean surface.
Place the swab in your mouth on your tongue and wet it with saliva for ten seconds.
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.
Repeat the sequence of point 7 on the other side of the mouth.
After taking the sample, put the swab back into the plastic tube and close it securely.
Place the sample in a biosafety bag and seal securely. Repeat the same procedure with the smear sample of the other cheek.
Place the sealed bag in a buffered envelope.
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

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Resources

https://medicover-genetics.com/our-genetic-tests/reproductive-health/carrier-screening/

Lazarin, Gabriel A., et al. "Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels." PLoS ONE, vol. 9, no. 12, 2014
American College of Obstetricians and Gynecologists "Committee Opinion No. 691: Carrier Screening for Genetic Conditions.” Obstetrics & Gynecology, vol. 129, no. 3, 2017
Edwards, Janice G., et al. "Expanded Carrier Screening in Reproductive Medicine—Points to Consider." Obstetrics & Gynecology, vol. 125, no. 3, 2015, pp. 653–662
Gregg, Anthony R., et al. "Screening for Autosomal Recessive and X-Linked Conditions During Pregnancy and Preconception: A Practice Resource of the American College of Medical Genetics and Genomics (ACMG)." Genetics in Medicine, vol. 23, no. 10, 2021, pp. 1793–1806

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This medical information is not intended to be a universal treatment guide for all patients. The treatment process, including the type, volume, and frequency of diagnostic tests and therapeutic procedures, is determined by the physician individually — based on an assessment of the patient's condition and relevant medical indications. The decision is made in consultation with the patient. Before purchasing a test, please read the instructions for its preparation.