The KaryoSeq Test is designed to identify a wide range of chromosomal abnormalities, including:
- Numerical Abnormalities: These include changes in the number of chromosomes, such as:
- Trisomy: The presence of an extra chromosome, resulting in conditions like Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13).
- Monosomy: The absence of one chromosome from the normal pair, such as Turner syndrome (Monosomy X), where a female has only one X chromosome instead of two.
- Structural Abnormalities: These involve changes in the structure of chromosomes, such as:
- Deletions: Missing segments of a chromosome, which can result in genetic disorders depending on the genes located in that segment.
- Duplications: Extra segments of a chromosome which can disrupt normal gene function and lead to genetic conditions.
- Microdeletions and Microduplications: These are tiny segments of chromosomes that are either missing (microdeletions) or duplicated (microduplications), which are often missed by traditional methods:
- Microdeletions: Small deletions that can lead to conditions like Prader-Willi syndrome, Angelman syndrome, and DiGeorge syndrome.
- Microduplications: Small duplications that can cause various genetic disorders.
This comprehensive detection capability makes KaryoSeq a powerful tool for diagnosing various genetic conditions.
