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Test ID XYMF Known 45,X, Mosaicism Reflex Analysis, FISH, Whole Blood

Useful For

Detecting sex chromosome mosaicism in patients with a 45,X karyotype

Genetics Test Information

This test is only appropriate to detect low levels of sex chromosome mosaicism when a nonmosaic 45,X karyotype has been observed.

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
_I099 Interphases, 25-99 No, (Bill Only) No
_I300 Interphases, >=100 No, (Bill Only) No
_IL25 Interphases, <25 No, (Bill Only) No
_PADD Probe, +1 No, (Bill Only) No
_PB02 Probe, +2 No, (Bill Only) No
_PB03 Probe, +3 No, (Bill Only) No
_PBCT Probe, +2 No, (Bill Only) No

Testing Algorithm

This test includes a charge for application of the first probe set (2 FISH probes) and professional interpretation of results.

 

Appropriate ancillary probes may be performed at consultant discretion to render comprehensive assessment. Any additional probes will have the results included within the final report and will be performed at an additional charge.

Method Name

Fluorescence In Situ Hybridization (FISH)

Reporting Name

Known 45,X Mosaicism Reflex, FISH

Specimen Type

Whole blood


Ordering Guidance


This test does not detect other chromosomal or structural anomalies and is intended to be ordered after a complete chromosome analysis.



Shipping Instructions


Advise Express Mail or equivalent if not on courier service.



Necessary Information


A reason for testing must be provided. The laboratory will not reject testing if this information is not provided however an applicable indication for testing may be entered by Mayo Clinic Laboratories. Appropriate testing and interpretation may be compromised or delayed.



Specimen Required


Container/Tube:

Preferred: Green top (sodium heparin)

Acceptable: Lavender top (EDTA) or yellow top (ACD)

Specimen Volume: 4 mL

Collection Instructions

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

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

4. Cord blood is acceptable

Additional Information:

1. If the specimen does not grow in culture, you will be notified within 7 days of receipt.

2. Specimen cannot be frozen.


Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred)
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

Report Available

7 to 9 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

88271x2, 88291-DNA probe, each (first probe set), Interpretation and report

88271x2-DNA probe, each; each additional probe set (if appropriate)

88271x1-DNA probe, each; coverage for sets containing 3 probes (if appropriate)

88271x2-DNA probe, each; coverage for sets containing 4 probes (if appropriate)

88271x3-DNA probe, each; coverage for sets containing 5 probes (if appropriate)

88274 w/modifier 52-Interphase in situ hybridization, <25 cells, each probe set (if appropriate)

88274-Interphase in situ hybridization, 25 to 99 cells, each probe set (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
XYMF Known 45,X Mosaicism Reflex, FISH 87436-2

 

Result ID Test Result Name Result LOINC Value
51844 Result Summary 50397-9
51846 Interpretation 69965-2
54537 Result 62356-1
CG668 Reason for Referral 42349-1
51847 Specimen 31208-2
51848 Source 31208-2
51849 Method 85069-3
54451 Additional Information 48767-8
55279 Disclaimer 62364-5
51850 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)