Chromosome Analysis, Congenital Disorders, Blood
Use
Chromosome analysis is useful for diagnosing congenital chromosome abnormalities such as aneuploidy, structural abnormalities, and balanced rearrangements. It is particularly relevant for individuals displaying clinical features of infertility, multiple miscarriages, delayed puberty, ambiguous genitalia, amenorrhea, or symptoms indicative of an aneuploidy syndrome such as Down syndrome, Turner syndrome, Klinefelter syndrome, Trisomy 13 syndrome, and Trisomy 18 syndrome. However, it is not appropriate for detecting acquired chromosome abnormalities associated with hematologic disorders.
Special Instructions
Informed consent is required for New York clients. It should be documented on the request form or electronic order that a copy is on file. For proper interpretation and testing, providing a reason for testing with each specimen is necessary, though the laboratory will proceed with testing even if this information is not provided. Proper specimen handling is crucial; improper anticoagulants or handling can harm cell viability.
Limitations
A normal karyotype does not eliminate the possibility of conditions caused by submicroscopic cytogenetic abnormalities, molecular mutations, and environmental factors. Mosaicism might be missed due to statistical sampling error, and subtle chromosomal abnormalities can occasionally be missed. This test is not suitable for detecting acquired chromosomal abnormalities and is not appropriate as a first-tier test for certain conditions like intellectual disabilities and autism.
New York Approved
Methodology
Chromosomal / Cytogenetics (Karyotype)
Biomarkers
LOINC Codes
- 81862-5
- 50397-9
- 69965-2
- 82939-0
- 42349-1
- 31208-2
- 85069-3
- 62359-5
- 48767-8
- 18771-6
Result Turnaround Time
10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
Green top (sodium heparin)
Collection Instructions
Invert several times to mix blood. Other anticoagulants are not recommended and are harmful to the viability of the cells. Label specimen as whole blood.
Storage Instructions
Ambient (preferred)
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.