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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.
Methodology
Restriction Enzyme Digestion/Polymerase Chain Reaction (PCR)/Fragment Analysis
Performed
Varies
Reported
10-14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
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
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
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