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.
Copyright 1994-2017MedHelp International.All rights reserved. MedHelp is a division of Aptus Health.
The Content on this Site is presented in a summary fashion, and is intended to be used for educational and entertainment purposes only. It is not intended to be and should not be interpreted as medical advice or a diagnosis of any health or fitness problem, condition or disease; or a recommendation for a specific test, doctor, care provider, procedure, treatment plan, product, or course of action. Med Help International, Inc. is not a medical or healthcare provider and your use of this Site does not create a doctor / patient relationship. We disclaim all responsibility for the professional qualifications and licensing of, and services provided by, any physician or other health providers posting on or otherwise referred to on this Site and/or any Third Party Site. Never disregard the medical advice of your physician or health professional, or delay in seeking such advice, because of something you read on this Site. We offer this Site AS IS and without any warranties. By using this Site you agree to the following Terms and Conditions. If you think you may have a medical emergency, call your physician or 911 immediately.