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

Test covered by the reimbursement:
YES
Clinical expertise code:
208
Test without reimbursement:
YES
Gender:
Woman/Man
Material:
Peripheral blood, Buccal swab …
Turnover time:
1 week
STATIM:
2 days

Material:

Peripheral blood | 1x 3 ml of whole blood in K3 EDTA tube
Storage after examination: week after the report is issued 2 – 8°C
Buccal swab | 2x swab stick for buccal swab collection
Storage after examination: week after the report is issued 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 after examination: stored in a DNA archive without restriction 15°C
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
Conception product | Foetal tissue in saline
Storage after examination: 1 aliquot is stored -25°C
Cultured cells | 1.5 ml of cultured cells in a microtube (Eppendorf type)
Storage after examination: 180 days 2 – 8°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
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
DNA isolated from the product of conception | 50–100 ng/μL in 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

Quick test description:

Testing for aneuploidy of chromosomes 13, 18, 21, X and Y 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 for the testing of chromosomes 13, 18, 21, X and Y from the proband’s peripheral blood. 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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