Test Details
Methodology
Lymphocyte culture with mitogen stimulation, colchicine arrest of cells in mitosis with predominantly early metaphases, methanol/acetic acid fixation, spread preparation, trypsin-Giemsa banding, chromosome analysis of 20 metaphases with preparation and analysis of multiple karyotypes. Other banded preparations are made as needed. Fluorescence in situ hybridization (FISH) ordered as needed (see test 510770).
Result Turnaround Time
5 - 13 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Test Includes
This test includes 20 cell microscopic analysis and G-banded karyotype analysis.
Use
This test is used to 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
Pertinent medical findings must accompany request for chromosome analysis. Include the patient's name, age and suspected diagnosis. If cord blood or fetal blood is received, Test No. 510180 will be added to exclude maternal origin of the sample obtained.
Limitations
This result does not exclude the possibility of subtle rearrangements below the resolution of cytogenetics or congenital anomalies due to other etiologies.
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Contraindications
Not for stillborn cases, skin biopsy, or placental villi
Specimen Requirements
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. Use of improper anticoagulant and/or frozen specimen cannot be processed.
Stability Requirements
Maintain sample at room temperature and send immediately; sample should reach the laboratory within 24 hours. Refrigerate or include cold packs for delays.
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, suitability of specimen will be determined by the Cytogenetics laboratory.
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 511035 | Chromosome, Blood, Routine | 510645 | Specimen Type | 31208-2 | ||
| 511035 | Chromosome, Blood, Routine | 510646 | Cells Counted | 62361-1 | ||
| 511035 | Chromosome, Blood, Routine | 510647 | Cells Analyzed | 62360-3 | ||
| 511035 | Chromosome, Blood, Routine | 510648 | Cells Karyotyped | 55199-4 | ||
| 511035 | Chromosome, Blood, Routine | 510649 | GTG Band Resolution Achieved | 62358-7 | ||
| 511035 | Chromosome, Blood, Routine | 510650 | Cytogenetic Result | 29770-5 | ||
| 511035 | Chromosome, Blood, Routine | 511027 | Interpretation | 62365-2 | ||
| 511035 | Chromosome, Blood, Routine | 511028 | Director Review: | 48672-0 | ||
| 511035 | Chromosome, Blood, Routine | 512123 | 11502-2 | |||
| Order Code | 511035 | |||||
| Order Code Name | Chromosome, Blood, Routine | |||||
| Order Loinc | ||||||
| Result Code | 510645 | |||||
| Result Code Name | Specimen Type | |||||
| UofM | ||||||
| Result LOINC | 31208-2 | |||||
| Order Code | 511035 | |||||
| Order Code Name | Chromosome, Blood, Routine | |||||
| Order Loinc | ||||||
| Result Code | 510646 | |||||
| Result Code Name | Cells Counted | |||||
| UofM | ||||||
| Result LOINC | 62361-1 | |||||
| Order Code | 511035 | |||||
| Order Code Name | Chromosome, Blood, Routine | |||||
| Order Loinc | ||||||
| Result Code | 510647 | |||||
| Result Code Name | Cells Analyzed | |||||
| UofM | ||||||
| Result LOINC | 62360-3 | |||||
| Order Code | 511035 | |||||
| Order Code Name | Chromosome, Blood, Routine | |||||
| Order Loinc | ||||||
| Result Code | 510648 | |||||
| Result Code Name | Cells Karyotyped | |||||
| UofM | ||||||
| Result LOINC | 55199-4 | |||||
| Order Code | 511035 | |||||
| Order Code Name | Chromosome, Blood, Routine | |||||
| Order Loinc | ||||||
| Result Code | 510649 | |||||
| Result Code Name | GTG Band Resolution Achieved | |||||
| UofM | ||||||
| Result LOINC | 62358-7 | |||||
| Order Code | 511035 | |||||
| Order Code Name | Chromosome, Blood, Routine | |||||
| Order Loinc | ||||||
| Result Code | 510650 | |||||
| Result Code Name | Cytogenetic Result | |||||
| UofM | ||||||
| Result LOINC | 29770-5 | |||||
| Order Code | 511035 | |||||
| Order Code Name | Chromosome, Blood, Routine | |||||
| Order Loinc | ||||||
| Result Code | 511027 | |||||
| Result Code Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | 62365-2 | |||||
| Order Code | 511035 | |||||
| Order Code Name | Chromosome, Blood, Routine | |||||
| Order Loinc | ||||||
| Result Code | 511028 | |||||
| Result Code Name | Director Review: | |||||
| UofM | ||||||
| Result LOINC | 48672-0 | |||||
| Order Code | 511035 | |||||
| Order Code Name | Chromosome, Blood, Routine | |||||
| Order Loinc | ||||||
| Result Code | 512123 | |||||
| Result Code Name | ||||||
| UofM | ||||||
| Result LOINC | 11502-2 |