NGS Genomic Test · From product of conception (POC)

POCAdvance
Tissue GENETICS

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POCAdvance Tissue Genetics

POCAdvance Tissue Genetics is a multigene Next-Generation Sequencing (NGS)-based test that investigates genetic determinants associated with non-chromosomal recurrent spontaneous pregnancy loss. The test enables targeted molecular evaluation of genetic factors predisposing to recurrent pregnancy loss. The test is designed to:

  • investigate genetic causes associated with recurrent miscarriages and/or implantation failures (IVF/ICSI);
  • provide clinically relevant information for reproductive risk assessment and couple counseling;
  • further evaluate cases in which cytogenetic/cytogenomic analysis of the POC has excluded a chromosomal cause of pregnancy loss.

Test specifications

Report issued in ~15 working days
Targeted molecular evaluation of genetic factors predisposing to recurrent pregnancy loss
Sequencing of the coding regions of approximately 7,000 genes
Clear results: Pathogenic variant detected or not detected

Two levels of analysis

The diagnostic pathway offers two possible levels of analysis: a targeted analysis of a panel of genes selected and specifically associated with the condition, or a broader Clinical Exome Sequencing investigation.

FOCUS

Targeted analysis of 19 genes in which pathogenic variants have been associated with non-chromosomal recurrent spontaneous pregnancy loss.

Genes Analyzed
NLRP7 (NALP7)
KHDC3L
SYCP3
HLA-G
WNT6
CEP250
CGB
NLRP10
PROKR1
FOXP3
OSBPL5
C4BPA
ANXA5
CD46
REC114
FOXD1
NLRP5
PADI6
TLE6

EXOME

Clinical Exome Sequencing: sequencing of the coding regions of approximately 7,000 genes, including genes known to be associated with pregnancy loss and related phenotypes.

Clinical relevance

Identification of a pathogenic variant in one of the analyzed genes suggests a possible genetic determinant associated with recurrent spontaneous pregnancy loss and may support more informed reproductive planning and personalized counseling.

Interpretation of results

Positive

Pathogenic variant detected

Clinical significance should be interpreted in the context of: reproductive and clinical history, laboratory/instrumental findings, cytogenetic/cytogenomic results.

Negative

No pathogenic variant detected

This does not exclude a genetic basis, as the cause may involve: genes not included in the panel (FOCUS level), variants in regions not investigated or not fully assessable, non-genetic multifactorial determinants

Test indications

POCAdvance Tissue Genetics is particularly indicated in the following clinical settings:

  • Spontaneous miscarriage with a negative result on cytogenetic/cytogenomic analysis of the POC;
  • history of recurrent miscarriage with no identified chromosomal cause;
  • repeated pregnancy losses in the absence of an exhaustive clinical explanation.

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: ~ 15 working days

Brochure

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