Chromosome Analysis, Whole Blood (Constitutional)
Also known as: Karyotype, Routine G-Banding
Use
Evaluate congenital malformations, intellectual disability, growth problems, infertility, cryptorchidism, hypogonadism, amenorrhea (primary), abnormal/ambiguous genitalia, recurrent miscarriage, Turner syndrome, Klinefelter syndrome, Down syndrome or other suspected chromosomal disorders
Special Instructions
Not provided.
Limitations
This result does not exclude the possibility of subtle rearrangements below the resolution of cytogenetics or congenital anomalies due to other etiologies. Not for stillborn cases, skin biopsy, or placental villi.
Methodology
Chromosomal / Cytogenetics (Karyotype)
Biomarkers
Chromosome Whole Genome
Chromosome
LOINC Codes
- 31208-2 - Specimen source
- 62361-1 - Cells counted
- 62360-3 - Cells analyzed
- 55199-4 - Cells karyotyped.total Bld/T
- 62358-7 - ISCN band level Ql
- 29770-5 - Karyotyp Bld/T
- 62365-2 - Diagnostic imp Spec-Imp
- 48672-0 - Clinical cytogeneticist Spec
Result Turnaround Time
5-13 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL (adults), 2 mL (neonates)
Minimum Volume
2 mL
Container
Green-top (sodium heparin) tube
Collection Instructions
Using sterile technique, collect 5 mL of blood into a green-top (sodium heparin) tube or syringe. Invert the tube several times to prevent coagulation. Specimens should be sent the same day as collected.
Storage Instructions
Specimen should be sent to the laboratory immediately. Maintain specimen at room temperature. Specimens may be refrigerated if there is a delay in shipment. Do not freeze.
Causes for Rejection
Upon receipt, the suitability of the specimen will be determined by the Cytogenetics laboratory.
Other tests from different labs that may be relevant