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 |
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟