PRIMARILY USED FOR EVALUATION OF PEDIATRIC PATIENTS WITH DYSMORPHIC FEATURES, CONGENITAL ABNORMALITIES, AUTISM, INTELLECTUAL & LEARNING DISABILITIES, DEVELOPMENTAL DELAYS ETC. DIAGNOSIS OF CONGENITAL DISORDERS ARISING FROM GENOMIC COPY NUMBER VARIATIONS E.G. ANEUPLOIDIES (E.G. TRISOMIES, TURNER SYNDROME, KLINEFELTER SYNDROME), MOSAICISM >20%, MICRODELETIONS & MICRODUPLICATIONS WITHIN THE ASSAY'S RESOLUTION.
Test Limitations/ Confounders
CANNOT DETECT BALANCED CHROMOSOMAL REARRANGEMENTS, SINGLE GENE DISORDERS, MOSAICISM <20% ETC. HIGHER RISK OF UNCERTAIN & INCIDENTAL FINDINGS THAN KARYOTYPING.