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Microarray & Whole Exome Sequencing
My wife is pregnant. 5th month anomaly scan showed nuchal fold thickness 6.4 mm and doctor asked to do amniocentesis. The scan showed no other abnormalities in the child. We performed micro array testing and whole exome sequencing. The micro array report reads as follows "The cytogenomic microarray analysis showed a loss involving chromosome 13q14.11q14.2 (3.8 MB), indicating deletion in this region. This deletion contains 44 genes. This deletion does not contain RB1 gene which is the critical gene in this region. Since the deletion has not been reported previously, the above copy number variant is classified as Uncertain Significance" but the whole exome report says "No reportable sequence variants or copy number variants (CNV) related to phenotype detected". What should be learned from these two reports? Is micro array test or whole exome sequencing more reliable?
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Nothing can be learnt from this report by a person of average intelligence, whether a Doctor or not.
You should consult with a Geneticist or with the Doctor who recommended this test.
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Genetic specialist
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Dr. Sarita Mishra
Gynecologist
3 yrs exp
Lucknow
Consult genetic specialist
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Dr. Hemali Bharat Karia
Obstetrics & Gynecology
7 yrs exp
Rajkot
Connect pls
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Dr. Raj M Mehta
Gynecologist/Obstetrician
9 yrs exp
Ahmedabad
Whole genome sequencing has more detection rate and more reliable
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Disclaimer : The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding your medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.