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- Coverage targets all telomere and centromere regions and known microdeletion/microduplication syndromes
- 44,000 custom oligos provide a resolution equivalent to 6,000 band karyotype
- Genome wide coverage with oligos at a minimum of every 75kb
- Enriched coverage of all 41 unique telomere regions
- Enriched coverage of all 43 unique pericentromeric regions for improved marker chromosome identification
- Higher density coverage at over 100 clinically relevant deletion/duplication regions
- Pseudoautosomal probes for detection of sex chromosome imbalances
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- Unexplained developmental delay or mental retardation
- Dysmorphic features or congenital anomalies
- Autism spectrum disorders, seizures, or a clinical presentation suggestive of a chromosomal syndrome
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Oligo array will not detect translocations, inversions, smaller imbalances, point mutations, or low level mosaicism (usually less than 25%) that may underlie the clinical presentation of the patient
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