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Chromosome Analysis, Whole Blood (Constitutional)
CPT:
Contact CPT coding department at 800-222-7566, ext 6-8400.
Synonyms
- Karyotype
- Routine G-Banding
Test Includes
20 cell microscopic analysis; G-banded karyotype analysis
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 number will be changed to 511025 to exclude maternal origin of the sample obtained.
Expected 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.
Related Documents
Specimen Requirements
Specimen
Whole blood
Volume
5 mL (adult), 1 to 2 mL (neonate)
Minimum Volume
2 mL
Container
Green-top (sodium heparin) tube
Collection
Venipuncture: Thoroughly cleanse the area with a Betadine® scrub or similar preparation followed by a rinse with 70% alcohol (ethanol may be used instead of isopropyl and is less toxic). Collect 1 to 10 mL of blood into a heparinized tube. Invert the tube several times to prevent coagulation. If a Vacutainer® is used, let off any remaining vacuum by inserting a hypodermic needle or loosening the top briefly.
Skin lancet puncture: Thoroughly cleanse the site (finger, earlobe or newborn child's heel) by the above method. Rinse a sterile Pasteur pipet or TB syringe with approximately 0.5 mL of sterile heparin, and aspirate blood into it. Care must be taken to use only blood within the sterilized site; dripping blood may be removed with a sterile gauze pad. The blood-heparin mixture may be placed into a sterile tube for transport.
Specimens must be sent the same day as collected and arrive in the laboratory Monday through Saturday and within 72 hours of collection.
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
Hemolysis; specimen clotted; use of improper anticoagulant; frozen specimen. Upon receipt, suitability of blood specimen will be made at the Cytogenetics laboratory.
Test Details
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
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).
Contraindications
Not for stillborn cases, skin biopsy, or placental villi.
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 | 51967-8 |
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CPT Statement/Profile Statement
The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf