Microarray & Whole Exome Sequencing

2024-01-25 11:35:36
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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Pls connect for online consultation and advice

Answered2024-01-26 05:47:24

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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.

Answered2024-01-25 14:48:39

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Genetic specialist

Answered2024-01-25 11:59:07

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Consult genetic specialist

Answered2024-01-25 15:28:09

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Connect pls

Answered2024-01-25 13:11:46

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Whole genome sequencing has more detection rate and more reliable

Answered2024-01-25 12:02:21

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