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Test Code CHRTI Chromosome Analysis, Skin Biopsy

Useful For

Diagnosis of mosaic congenital chromosome abnormalities, including mosaic aneuploidy and mosaic structural abnormalities

 

Subsequent chromosome analysis when results from peripheral blood are inconclusive

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
_M15A Metaphases, 1-14 No, (Bill Only) No
_M19 Metaphases, 15-20 No, (Bill Only) No
_MG19 Metaphases, >20 No, (Bill Only) No
_KTG2 Karyotypes, >2 No, (Bill Only) No
_STAC Ag-Nor/CBL Stain No, (Bill Only) No

Testing Algorithm

This test includes a charge for cell culture of fresh specimens and professional interpretation of results. Analysis charges will be incurred for total work performed, and generally include 2 banded karyograms and the analysis of 20 metaphase cells. If no metaphase cells are available for analysis, no analysis charges will be incurred. If additional analysis work is required, additional charges may be incurred.

Method Name

Cell Culture followed by Chromosome Analysis

Reporting Name

Chromosomes, Skin Biopsy

Specimen Type

Tissue


Shipping Instructions


Advise Express Mail or equivalent if not on courier service.



Necessary Information


Provide a reason for testing 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.



Specimen Required


Specimen Type: Skin biopsy

Container/Tube: Sterile container with sterile RPMI transport media, Ringer's solution, or normal saline-RPMI transport media (T095-Petri dish is not needed for this test).

Specimen Volume: 4 mm diameter

Collection Instructions:

1. Wash biopsy site with an antiseptic soap.

2. Thoroughly rinse area with sterile water.

3. Do not use alcohol or iodine preparations.

4. A local anesthetic may be used.

5. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis.


Specimen Minimum Volume

4 mm punch biopsy

Specimen Stability Information

Specimen Type Temperature Time Special Container
Tissue Refrigerated (preferred)
  Ambient 

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretative report will be provided.

Day(s) Performed

Monday through Friday

Report Available

23 to 24 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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

CPT Code Information

88233, 88291- Tissue culture for skin/biopsy, Interpretation and report

88262 w/modifier 52-Chromosome analysis less than 15 cells(if appropriate)

88262-Chromosome analysis with 15 to 120 cells (if appropriate)

88262, 88285-Chromosome analysis with greater than 20 cells (if appropriate)

88280-Chromosome analysis, greater than 2 karyotypes (if appropriate)

88283-Additional specialized banding technique (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CHRTI Chromosomes, Skin Biopsy 62353-8

 

Result ID Test Result Name Result LOINC Value
52311 Result Summary 50397-9
52313 Interpretation 69965-2
52312 Result 82939-0
CG768 Reason for Referral 42349-1
52314 Specimen 31208-2
52315 Source 31208-2
52317 Method 85069-3
52316 Banding Method 62359-5
54642 Additional Information 48767-8
52318 Released By 18771-6

NY State Approved

Yes

Forms

New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)