Genetic Disorders Expert Forum
Prenatal diagnosis of Thalassemia using CVS
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Prenatal diagnosis of Thalassemia using CVS

I want to understand the report on "Prenatal diagnosis of Thalassemia using CVS" done at a reputed lab in India and understand how this test is done, and the result reported.

I have a few questions. Appreciate if you can clarify them.

I believe the Beta Thalassemia test also includes the linkage analysis of the parents DNA with the CVS sample, both for carrier detection and for prenatal diagnosis. Please correct me if my understanding of this is incorrect.

If linkage analysis was done, then the apparent failure to identify a gene marker transmitted by the father can indicate either the non-paternity or contamination of the sample. Is this conclusion correct?

If the report reads "CVS of XXX is Heterozygous for IVS1-5 (G-C) mutation by sequencing. Microsatellite analysis to rule out maternal contamination showed NO maternal contamination in the CVS", then there was no contamination in the sample, and the gene markers from both the parents DEFINITELY matched with that of the CVS sample.
Is this correct?

If it did not, either a new blood sample from the parent (father) would have to be provided for re-testing, unless DNA paternity testing techniques are used to prove or disprove non-paternity.

So, is it safe to assume that if non paternity was found or detected (due to the absence of a gene marker from the father or the sample provided), then the report would have mentioned it or it should have atleast reported it in this way, "CVS of XXX is Heterozygous for IVS1-5 (G-C) mutation by sequencing. Microsatellite analysis to rule out maternal contamination SHOWED maternal contamination in the CVS”?  

(Yes, I do understand that contamination can occur due to other reasons, but by repeated sequencing and analysis using techniques it is possible to eliminate this error, is it not?).

In the light of this conversation, your reply would help guide me in deciding whether paternity testing is required in this case or not.

Appreciate your reply soon.
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