CarrierTest Custom (IM) for Donors

Test bez úhrady ZP:
ANO
Pohlaví:
Žena/Muž
Materiál:
Peripheral blood, Isolated DNA from blood
Doba vyšetření:
4 weeks

Materiál:

Peripheral blood | 1x 3 ml of whole blood in K3 EDTA tube
Skladování před vyšetřením: 5 days 2 – 8°C
Isolated DNA from blood | 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.
Skladování před vyšetřením: 5 days 15 – 25°C
Buccal swab | 2x swab stick for buccal swab collection
Skladování před vyšetřením: 5 days 15 – 25°C

Rychlý popis testu:

CarrierTest Custom (IM) for Donors is a crucial genetic screening test designed for gamete donors, analyzing 35 genes associated with the most common serious autosomal recessive and X-linked diseases in our population. This test is essential to minimize the risk of unknowingly passing on a severe genetic condition to the recipients' offspring.

Detailní informace o testu:

CarrierTest Custom (IM) for Donors is an advanced carrier screening test intended primarily for the genetic health assessment of donors. The test aims to ensure maximum safety and reduce the risk of an unexpected birth of a child with a severe hereditary disorder by identifying your carrier status for mutations in 35 genes associated with autosomal recessive or X-linked diseases.

The analysis focuses on a carefully selected panel of 35 genes, based on disease prevalence and clinical severity. It utilizes advanced Next-Generation Sequencing (NGS) technology, which is highly effective for detecting common genetic changes like single-nucleotide polymorphisms (SNPs) and small insertions/deletions (InDels) within the coding regions of these genes.

Carrier testing is a critical step in the donor selection process, providing vital information for genetic counseling and successful matching with recipients. More information about the test, including the complete gene list, can be found in the associated document.