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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Comparison of prenatal genetic testing methods

Comparison of prenatal genetic testing methods
Goal  Karyotype CMA without SNPs CMA with SNPs Single gene sequencing test
Test can be performed on "direct prep" and does not require cell culture No Yes Yes Yes
Test can detect point mutation(s) for a single gene disorder No No No Yes
Test can detect balanced structural rearrangement
(eg, balanced translocation or balanced inversion, ring chromosome with no loss of genomic material)
Yes No No No
Test can detect unbalanced structural rearrangement
(eg, unbalanced translocation, ring chromosome with loss of some material)
Yes Yes Yes No
Test can detect copy gains/losses larger than 3 to 10 Mb, including whole chromosome aneuploidy Yes Yes Yes No
Test can detect copy gains/losses smaller than 3 to 10 Mb
(microdeletion and microduplication syndromes)
No Yes Yes No
Test can detect isochromosomes Yes Yes Yes No
Test can detect low-level mosaicism (approximately 10 to 15% mosaicism) for chromosome imbalance Yes No*  Yes No
Test can detect triploidy Yes No Yes No
Test can identify origin of small-marker chromosome NoΔ Yes Yes No
Test can detect uniparental disomy due to isodisomy
(NOTE: At least half of all uniparental disomy cases are heterodisomy and would not be detected)
No No Yes No
NOTE: There are overgeneralizations here; certain sequencing approaches, such as whole genome sequencing, can detect mosaicism, isodisomy, and even copy number changes. It is not a widespread clinical test yet.
CMA: chromosomal microarray; SNP: single nucleotide polymorphism; Mb: megabase.
* CMA without SNPs can detect mosaicism in the range of approximately 30% or higher.
¶ CMA with SNPs performs as well as or better than a conventional karyotype. The sensitivity of detection may vary depending on the density of SNP probe coverage.
Δ Karyotype can identify the presence of a small marker chromosome but typically cannot determine which chromosome is involved.
Graphic 109837 Version 3.0

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