Molecular genetic testing

The tests include prenatal diagnosing and a search for mutations in genes.
Owing to the participants of the charity event “Vitamins Picnic in the Gorky Park”, 80,000 rubles were raised. The fund settled the bill for molecular genetic testing of the following kids: Dima Manashevskiy, Matvey Vasin, Dzhamaludin Kurkiev, and Timofey Kutukov. The overall cost of the tests carried out was 68,400 rubles. The remaining 11,600 rubles will be spent on molecular genetic testing of other children, which will be carried out in the nearest future.

On average we cover expenses for these kinds of tests for 3-5 children a month. Depending on the number of children examined and complexity of the tests, the total costs are 50,000 - 100,000 rubles a month.

Story

Children with PID, followed up in the Department of Clinical Immunology of the RCCH, need molecular genetic tests to be done, since their disease is genetically determined.

The tests include prenatal diagnosing, which allows doctors to identify the risk of having immunodeficiency on the stage of pregnancy of the expectant mother, and a search for mutations in genes, making accurate diagnosis in patients with immunodeficiency a reality.

Unfortunately, these tests are not sponsored by the government and can be carried out only for the own funds of the patients, who rarely have an opportunity to pay for such expensive diagnostic procedures.

It is needed to cover expenses for testing the following children:

1. Dima Manashevskiy (b. in 2007. Diagnosis – PID, CGD) - mutation screening of the CYBB gene (18,000 rubles)

2. Matvey Vasin (b. in 2008. Diagnosis – PID, x-linked agammaglobulinemia) - mutation screening of the BTK gene (27,000 rubles)

3. Dzhamaludin Kurkiev (b. in 2007. Diagnosis - PID, x-linked agammaglobulinemia) - mutation screening of the BTK gene (27,000 rubles)

4. Timofey Kutukov (b. in 2012. Diagnosis - PID, x-linked agammaglobulinemia?) - family DNA testing - mutation screening of the BTK gene (4,000 rubles)

What has been done

Here we are publishing data on the children examined, and the costs of the tests, sponsored by us:

July 5, 2011 – Expenses (24,300 rubles) for a search for mutations in the viral thymidine kinase gene of patient T.A. Belik were covered. Diagnosis: Primary immunodeficiency. X-linked agammaglobulinemia due to B-cell deficiency.

July 5, 2011 - Expenses (24,300 rubles) for a search for mutations in the viral thymidine kinase gene of patient A.A. Tokarev were covered. Diagnosis: Primary immunodeficiency. X-linked agammaglobulinemia due to B-cell deficiency.

July 5, 2011 - Expenses (24,300 rubles) for a search for mutations in the viral thymidine kinase gene of patient V.V. Greschen were covered. Diagnosis: Primary immunodeficiency. X-linked agammaglobulinemia due to B-cell deficiency.

July 5, 2011 - Expenses (29,700 rubles) for a search for mutations in the MVK and CIAS1 genes of patient G.A. Smelkov were covered. Diagnosis: Primary immunodeficiency. Severe combined immunodeficiency (SCID).

May 12, 2011 - Expenses (24,300 rubles) for a search for mutations in the viral thymidine kinase gene of patient Konstantin Kirkin were covered. Diagnosis: Primary immunodeficiency. Agammaglobulinemia due to B-cell deficiency.

May 12, 2011 – Expenses (10,440 rubles) for a prenatal diagnostic test of patient Natalya Bezgodova were covered.