Karyotype is a Cytogenetic test to screen and evaluate the size, shape, and number of chromosomes in a sample of blood from a vein or sample from a fetus(amniotic fluid,CVS). Extra or missing chromosomes, or abnormal positions of chromosome pieces can cause problems with a person's growth, development, and body functions.It is also called traditional chromosomal analysis,Cytogenetic analysis or Karyotyping.

How does it works?

• chevron_rightCost-efficiency for sequencing single genes and 99.99% accuracy, especially suitable for verification sequencing for site-directed mutagenesis or cloned inserts.
• chevron_rightSanger sequencing is a robust testing strategy able to determine whether a point mutation or small deletion/duplication is present.
• chevron_rightTargeting smaller genomic regions in a larger number of samples.
• chevron_rightSequencing of variable regions.
• chevron_rightValidating results from next-generation sequencing (NGS) studies.
• chevron_rightVerifying plasmid sequences, inserts, mutations.
• chevron_rightHLA typing.
• chevron_rightGenotyping of microsatellite markers.

When to use it ?

• chevron_rightClinical findings are strongly suggestive of a well-described chromosome abnormality, such as Trisomy 21 (Down syndrome), Trisomy 18 (Edward syndrome), or Monosomy X (Turner syndrome).
• chevron_rightIndividuals with multiple congenital anomalies.
• chevron_rightCouples with unexplained recurrent miscarriage or infertility.

When not to use it?

• chevron_rightIndividuals with developmental delay, autism, or seizure disorder (use chromosomal microarray as a first tier test, and/or single gene analysis) .
• chevron_rightPersonal and family history are suggestive of a micro-deletion or micro-duplication syndrome (use chromosomal microarray).
• chevron_rightPersonal and family history are suggestive of a single gene disorder, such as cystic fibrosis or sickle cell disease (use single gene analysis).

• chevron_rightWhole extra chromosome or missing chromosome(Aneuploidy)
• chevron_rightLarge Structural Rearrangements
• chevron_rightMarker Chromosomes