NGS Genomic Test · From product of conception (POC)

POCAdvance
Tissue KARYO

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POCAdvance Tissue KARYO

POCAdvance Tissue KARYO is an advanced genetic test that enables determination of the molecular fetal karyotype directly from miscarriage tissue (product of conception – POC).

The test uses high-sensitivity, high-resolution massively parallel sequencing technologies (Next Generation Sequencing – NGS), enabling detection of fetal chromosomal alterations that may be responsible for the miscarriage event.

The primary clinical objective is to provide genetically relevant information on the causes of pregnancy loss, supporting the couple’s reproductive genetic counseling and family planning.

Test specifications

Report issued in ~5 working days
Detection of microdeletion and microduplication syndromes >1 Mb in size
Verified maternal contamination exclusion
No cell culture required

Advantages over traditional methods

POCAdvance Tissue KARYO overcomes the main limitations of conventional cytogenetic karyotyping, offering significant technical and clinical benefits.

No cell culture required

Eliminates the risk of culture failure and non-informative results, a frequent limitation of conventional techniques.

Maternal cell contamination exclusion

The genetic profile of the POC sample is compared with the maternal profile, ensuring analytical specificity for fetal DNA origin.

High resolution

Detects microdeletion and microduplication syndromes >1 Mb, compared with the ~10–15 Mb threshold of traditional cytogenetic karyotyping.

Rapid turnaround time

Results available in approximately 5 working days from sample receipt, for a timely diagnosis.

Interpretation of results

Positive

Chromosomal abnormality detected

A numerical and/or structural chromosomal abnormality has been identified in the fetal karyotype. The result provides information on the causes of the miscarriage event and supports reproductive genetic counseling.

Negative

No chromosomal abnormality detected

No chromosomal abnormalities were identified; the fetal profile is compatible with a euploid karyotype. Further clinical evaluation is recommended to identify other possible causes.

Test indications

POCAdvance Tissue KARYO is indicated in the following clinical scenarios:

  • Miscarriage in women who wish to obtain a genetic characterization of the product of conception.
  • Repeated pregnancy losses in the absence of an exhaustive clinical explanation.
  • History of recurrent miscarriage, to identify possible recurrent chromosomal alterations.

How to order the test

Kit
request
Documentation
completion
Sample
collection
Sample
shipment
Report
delivery

Sample types required for test execution

Miscarriage tissue (POC)
Maternal buccal swab
Sample handling note: the tissue must be placed in the provided tube and stored in saline solution. If shipment is delayed, refrigeration at +4°C is recommended.
Turnaround time: ~ 5 working days

Brochure

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