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2006352
X-Chromosome Inactivation Analysis
XCI
Ordering Recommendation
Use to determine X-chromosome inactivation (XCI) pattern for female carriers of X-linked disorders and assess pathogenicity of genetic variant in an X-linked gene. Test does not detect clonality.
New York DOH Approval Status
This test is not New York state approved. There are no New York state-approved laboratories available. Submit a Non-Permitted Laboratory Request Form (NPL) to the NYDOH prior to collection of specimen. If NPL is approved by NYDOH, and sample is received at ARUP, testing will be performed.
Specimen Required
Patient Preparation
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)
Specimen Preparation
Transport 2 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature
Refrigerated. Also acceptable: Ambient.
Unacceptable Conditions
Remarks
Stability
Room temperature: 1 week; Refrigerated: 1 month; Frozen: Unacceptable
Methodology
Restriction Enzyme Digestion/Polymerase Chain Reaction (PCR)/Fragment Analysis
Performed
Varies
Reported
10-14 days
Reference Interval
By report
Interpretive Data
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
Hotline History
N/A
CPT Codes
81204
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 2006353 | X-Chromosome Inactivation Specimen | 66746-9 |
| 2006354 | X-Chromosome Inactivation Interpretation | 35455-5 |
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
X-Chromosome Inactivation Analysis
