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Test ID CMS Chromosome Analysis, for Congenital Disorders, Blood

Useful For

Diagnosis of a wide variety of congenital conditions


Identification of congenital chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities

Testing Algorithm

This test is not appropriate for acquired disorders. If this test is ordered for any of the following diseases, or for any other hematological acquired disorder, the test will be cancelled and HBL/8537 Chromosome Analysis, Hematologic Disorders, Blood will be performed as the appropriate test:


• Acute lymphocytic leukemia

• Acute myelocytic leukemia

• Chronic lymphocytic leukemia

• Chronic myelocytic leukemia

• Leukemia

• Lymphoma

Method Name

Includes 2 banded karyograms, analysis of 20 or more metaphases, and other techniques when required.

Reporting Name

Chromosomes, Congenital, Blood

Specimen Type

WB Sodium Heparin

Specimen Required

Provide a reason for referral with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.



1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.

2. If not ordering electronically, submit a Cytogenetics/AFP Congenital Disorders Request Form (Supply T238) with the specimen.


Submit only 1 of the following specimens:


Specimen Type: Whole blood

Container/Tube: Green top (sodium heparin)

Specimen Volume: 5 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Other anticoagulants are not recommended and are harmful to the viability of the cells.

3. Label specimen as whole blood.


Specimen Type: Cord whole blood

Container/Tube: Green top (sodium heparin)

Specimen Volume: As much as possible

Collection Instructions:

1. Invert several times to mix blood.

2. Other anticoagulants are not recommended and are harmful to the viability of the cells.

3. Label specimen as cord blood.

Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time
WB Sodium Heparin Ambient (preferred)

Reference Values

46,XX or 46,XY. No apparent chromosome abnormality.

An interpretive report will be provided.

Day(s) and Time(s) Performed

Samples processed Monday through Sunday. Results reported Monday through Friday, 8 a.m.-5 p.m. CST.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

88230-Tissue culture for Lymphocytes

88291-Interpretation and report

88299-Unlisted cytogenetic study (Refer to patient report to apply the appropriate CPT code below in place of this unlisted cytogenetic study CPT code) 

Based on the total number of cells analyzed and counted, MML would recommend the following:

Chromosome analysis with less than 5 cells; CPT Code 88261 w/ modifier 52

Chromosome analysis with 5 to 14 cells; CPT Codes 88261, 88285

Chromosome analysis with 15 to 19 cells; CPT Code 88262

Chromosome analysis with 20 to 25 cells; CPT Code 88264

Chromosome analysis with more than 25 cells; CPT Codes 88264, 88285

LOINC Code Information

Result ID Reporting Name LOINC Code
16083 Specimen N/A
16330 Specimen ID N/A
16785 Source 31208-2
16084 Order Date N/A
G_37 Reason For Referral 42349-1
16088 Method 49549-9
50463 Banding Methods 62359-5
16090 Results 35129-6
16091 Interpretation 69965-2
16092 Amendment 35129-6
16093 Consultant N/A
16094 Report Date N/A