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 before examination: 1 day 15–25°C, 2–8°C for >8 hrs after collection
Amniotic fluid | 3x 10 ml of amniotic fluid in a tube
Storage before examination: 1 day 15–25°C, 2–8°C for >8 hrs after collection
Cord blood | 2–3 ml of cord blood in EDTA
Storage before examination: 1 days 15–25°C, 2–8°C for >8 hrs after collection
Isolated DNA from chorionic villi | 30–100 ng/μL of isolated DNA from chorionic villi in a microtube (Eppendorf type)
Storage before examination: 5 days 15 – 25°C
Isolated DNA from amniotic fluid | 30–100 ng/μL of isolated DNA from amniocentesis in a microtube (Eppendorf type)
Storage before examination: 5 days 15 – 25°C
Isolated DNA from cordocentesis | 30–100 ng/μL of isolated DNA from cordocentesis in a microtube (Eppendorf type)
Storage before examination: 5 days 15 – 25°C
DNA isolated from cultured cells | 30–100 ng/μL of isolated DNA from cultured cells in a microtube (Eppendorf type)
Storage before examination: 3 days 15 – 25°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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