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
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.
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.
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
Pathogenic variant detected
Clinical significance should be interpreted in the context of: reproductive and clinical history, laboratory/instrumental findings, cytogenetic/cytogenomic results.
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
request
completion
collection
shipment
delivery
Sample types required for test execution
Brochure
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