PreSENTIA: Myelodysplastic Syndrome / Leukemia

Synonyms: -

Material:

Buccal swab

TAT:

2-3 weeks

Method:

NGS

Overview

Myelodysplastic syndrome is a type of blood cancer in which blood cells in the bone marrow do not mature and cannot develop into healthy blood cells. These cells have an abnormal size, shape and phenotype. Myelodysplastic syndrome can lead to the development of acute myeloid leukemia (AML) in which the immature, abnormal cells build up in the bone marrow and the body cannot produce cells such as red blood cells, white blood cells and platelets. People who have inherited Myelodysplastic syndrome have increased risk of developing leukemia in the future, which is the 15th most common type of cancer worldwide.

PreSENTIA hereditary Myelodysplastic syndrome/Leukemia cancer panel tests for numerous germline mutations in 24 genes that could cause blood cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

PreSENTIA: Myelodysplastic Syndrome / Leukemia

24 Gene(s)*

ATM

BRCA1

BRCA2

BRIP1

EPCAM

ERCC4

FANCA

FANCB

FANCC

FANCD2

FANCE

FANCF

FANCG

FANCI

FANCL

FANCM

MLH1

MSH2

MSH6

PALB2

PMS2

RAD51C

SLX4

TP53

Who is the test for

How many hereditary cancer syndromes are associated with this panel

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 01.10.2026

How to order a genetic test

Select the right test for your patients. Contact our team in case you do not have an active contract yet.

Collect the sample. Download and fill in the order and consent form or access our portal (available for sample sent to Germany).

Properly pack the sample and send it to Medicover Genetics.

The sample will be analysed in our accredited laboratories.

An actionable report will be available for you to access safely and securely.

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