Peripheral Blood Chromosome Analysis

Clinical info High resolution chromosome analysis requires the use of elongation methods to obtain a high percentage of prophase and prometaphase spreads. The chromosomes are less condensed than in routine metaphase analysis and the number of identifiable bands is expanded, allowing a more sensitive analysis of the karyotype. Because special culture conditions are required, high resolution studies must be specifically requested.

STAT Newborn Testing: In addition to routine chromosomes FISH can be performed on peripheral blood or cord blood from newborns at risk for trisomy 13, 18, 21 or abnormalities of sex chromosome number. Blood must be collected in a sodium heparin (green top) tube. Please call to advise when samples are being sent for this screening. Results are obtainable within 24-48 hours of receipt.
Specimen Requirements 5-10 ml peripheral blood in a sodium heparin (green top) Vacutainer™ tube. In newborn infants, 2 to 3 ml of blood may be sufficient. Certain anticoagulants, such as lithium heparin and ammonium heparin, may be toxic to lymphocytes; therefore sodium heparin is the anticoagulant of choice. Certain types of blood collection tubes have also been associated with reduced cell growth, therefore Vacutainer TM tubes, as opposed to Venoject™ tubes, are preferred for specimen collection.
Transport Specimen should be kept at room temperature; do not freeze or refrigerate. Specimen should be sent by courier or overnight mail to arrive at the laboratory within 24 hours.
Turnaround time Chromosome Analysis: 21 days

Trisomy FISH Screen (STAT): 24-48 hours
CPT Codes

Routine Chromosomes: 88230, 88262, 88291
High Resolution Chromosomes: 88230, 88262, 88289, 88291
FISH Trisomy screen: 88235, 88275, 88271x4, 88291
Short Study Chromosomes: 88230, 88261, 88291


Routine Chromosomes: $602.00
High Resolution Chromosomes: $794.00
FISH Trisomy screen*: $1094.00
Short Study Chromosomes: $530.00

*There will be an additional $50 STAT fee added to any newborn trisomy FISH screen.

Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Cytogenetics Lab

The Cytogenetics Lab provides high quality analysis for the detection of both constitutional chromosomal aberrations as well as abnormalities related to hematological malignancies

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