QF-PCR aneuploidy testing of chromosomes 13, 18, 21, X and Y

Test covered by the reimbursement:

YES

Gender:

Woman

Material:

Chorionic villi, Amniotic fluid …

STATIM:

2 days

Material:

Chorionic villi | Chorionic villi, min. 30 mg tissue in a microtube (Eppendorf type)

Storage after examination: week after the report is issued 2 – 8°C

Amniotic fluid | 3x 10 ml of amniotic fluid in a tube

Storage after examination: week after the report is issued 2 – 8°C

Cord blood | 2–3 ml of cord blood in EDTA

Storage after examination: week after the report is issued 2 – 8°C

Isolated DNA from chorionic villi | 30–100 ng/μL of isolated DNA from chorionic villi in a microtube (Eppendorf type)

Storage after examination: stored in a DNA archive without restriction 15°C

Isolated DNA from amniotic fluid | 30–100 ng/μL of isolated DNA from amniocentesis in a microtube (Eppendorf type)

Storage after examination: stored in a DNA archive without restriction 15°C

Isolated DNA from cordocentesis | 30–100 ng/μL of isolated DNA from cordocentesis in a microtube (Eppendorf type)

Storage after examination: stored in a DNA archive without restriction 15°C

DNA isolated from cultured cells | 30–100 ng/μL of isolated DNA from cultured cells in a microtube (Eppendorf type)

Storage after examination: stored in the DNA archive 15°C

Quick test description:

Rapid diagnostic testing of prenatal samples is used to determine aneuploidy of chromosomes 13, 18, 21 and sex chromosomes by QF-PCR.

Test details:

The testing serves as a rapid diagnosis of chromosome aneuploidy related to severe genetic conditions and syndromes. It is performed by analysis of polymorphic STR markers, including the PCR technique and capillary electrophoresis. The method uses multiplex QF-PCR to multiply multiple fluorescently labelled DNA fragments of specific STR markers on the chromosomes tested in a single reaction. After amplification, DNA fragments are then separated, detected and analysed using capillary electrophoresis and appropriate software on a genetic analyzer. Fragments of individual STR markers are specified by the length and type of fluorescence labelling. Each fluorescently labelled DNA fragment appears as a peak with a certain height/area that is proportional to the amount of DNA. A standard set of markers is used to test chromosomes 13, 18, 21, X and Y in DNA from chorionic villi, amniotic fluid or aborted foetal tissue, or maternal blood to exclude maternal contamination. In the case of insufficient informativeness of the STR markers and to verify the findings in the samples tested, marker supersets (13, 18, 21, X and Y) are used.

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