SCIENTIFIC BACKGROUND

Amfira PST-SR includes PGT-A analysis, testing for whole, partial and mosaic changes on all 23 chromosomal pairs.

Selected male polyploidies are reported, along with segmental or structural aneuploidies over 10Mb.

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Background

Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) examines all chromosomes of embryos to detect the embryos that are euploid or chromosomally balanced, and have the best prospect to achieve pregnancy.

 

PGT-SR tests for whole, partial and mosaic changes in all 23 chromosomal pairs, and can detect selected male polyploidies and segmental changes over 10Mb.

 

Who is this test for?

This test is applicable for diagnosed carriers of balanced rearrangements (translocations), where a person has the correct number of chromosomes but not in the correct location.

A person with a balanced translocation may have:

• Difficulty conceiving

• Recurrent pregnancy loss

• A child without the translocation, or with a balanced form of the translocation (phenotypically healthy)

• A child with an unbalanced form of the translocation that will have extra or missing chromosomal material, which may cause physical or intellectual impairments.

 

GENES

Amfira PST-SR includes PGT-A analysis, testing for whole, partial and mosaic changes on all 23 chromosomal pairs. Selected male polyploidies are reported, along with segmental or structural aneuploidies over 10Mb.

ASSOCIATED TESTS

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