Karyosequencing + CNV Analysis

What This Test Detects
Whole chromosome aneuploidies

Large chromosomal rearrangements and imbalances

Microdeletions and microduplications (CNVs)

Unbalanced translocations

Mosaicism (above assay detection limits)
Clinical Indications

Prenatal genetic evaluation (abnormal ultrasound findings)

Developmental delay or intellectual disability

Congenital anomalies

Recurrent pregnancy loss

Infertility investigations
Limitations

Balanced translocations and inversions may not be detected

Very low-level mosaicism may not be identified

Variants of uncertain significance (VUS) may be reported