QF-PCR gender testing

Test covered by the reimbursement:

YES

Gender:

Woman

Material:

Peripheral blood, Buccal swab …

Turnover time:

3 weeks

STATIM:

1 week

Material:

Peripheral blood | 1x 3 ml of whole blood in K3 EDTA tube

Storage before examination: 5 days 2 – 8°C

Buccal swab | 2x swab stick for buccal swab collection

Storage before examination: 5 days 15 – 25°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

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

Conception product | Foetal tissue in saline

Storage before examination: 5 days 2–8°C for >8 hrs after collection

Cultured cells | 1.5 ml of cultured cells in a microtube (Eppendorf type)

Storage before examination: 3 days 2 – 8°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

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

DNA isolated from the product of conception | 50–100 ng/μL in 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

Quick test description:

Testing for sex chromosomes X and Y by QF-PCR.

Test details:

The testing serves as a rapid diagnosis of sex chromosomes 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 X and Y chromosomes 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 (X and Y) are used.

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