U.S. flag

An official website of the United States government

GTR Home > Tests > Standard karyotype (pediatric)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

Help

A disorder that results from a chromosomal abnormality. [from NCI]

Conditions tested

Target population

Help

Individuals with a clinically suspected chromosomal aneuploidy. Individuals with normal microarray, to exclude low-level mosaicism or a de novo alteration that may result in a position effect. Family members of a proband with a known cytogenetic abnormality or individuals with a family history that suggests chromosomal rearrangements.

Citations

  • Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors. - PubMed ID: 15959648
  • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. - PubMed ID: 20962661

Clinical validity

Help

Not provided

Clinical utility

Help

Reproductive decision-making

Citations
  • Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors. - PubMed ID: 15959648

Establish or confirm diagnosis

Citations
  • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. - PubMed ID: 20962661

Guidance for management

Citations
  • Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. - PubMed ID: 20962661

Practice guidelines

  • NSGC, 2021
    National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.