CarrierTest Custom IM

Test without reimbursement:
YES
Gender:
Woman/Man
Material:
Peripheral blood, Isolated DNA from blood …
Turnover time:
4 weeks

Material:

Peripheral blood | 1x 3 ml of whole blood in K3 EDTA tube
Storage before examination: 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.
Storage before examination: 5 days 15 – 25°C
Buccal swab | 2x swab stick for buccal swab collection
Storage before examination: 5 days 15 – 25°C

Quick test description:

CarrierTest Custom (IM) is a comprehensive genetic test that analyzes over 420 genes associated with the most common serious autosomal recessive and X-linked diseases in our population. It helps healthy couples reduce the risk of unknowingly passing on a genetic condition to their offspring.

Test details:

CarrierTest Custom (IM) is an advanced carrier screening test primarily intended for healthy individuals and couples who are planning a family and want to know their genetic risk. The test aims to reduce the risk of an unexpected birth of a child with a severe hereditary disorder by identifying your carrier status for mutations in genes associated with autosomal recessive or X-linked diseases. The analysis focuses on a virtual panel of over 420 genes, carefully selected based on disease prevalence. It utilizes the power of Whole Exome Sequencing (WES) NGS technology, making it highly effective for detecting common genetic changes like single-nucleotide polymorphisms (SNPs) and small insertions/deletions (InDels) within the coding regions of these genes. More information about the test, including the full gene list (Table 2), can be found in the associated document below.

CarrierTest Custom IM Residual Risc Table Full.pdf CarrierTest Custom IM Residual Risc Table Full.pdf CarrierTest Custom (IM) Limitations & Methodology & ResidualRisks CarrierTest Custom (IM) Limitations & Methodology & ResidualRisks
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