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2009033
Fragile X (FMR1) with Reflex to Methylation Analysis
FRAG X PCR
Ordering Recommendation
Preferred test to diagnose fragile X syndrome. May be used as carrier screening in individuals with a positive family history.
New York DOH Approval Status
This test is New York state approved.
Specimen Required
Patient Preparation
Collect
Lavender (K2EDTA), 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
Polymerase Chain Reaction (PCR)/Capillary Electrophoresis
Performed
Varies
Reported
4-14 days
Reference Interval
By report
Interpretive Data
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
If a CGG repeat of 100 or greater is detected by PCR and capillary electrophoresis, methylation analysis will be added. Additional charges apply.
Hotline History
Hotline History
Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
N/A
CPT Codes
81243; if reflexed, add 81244
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 0050556 | Fragile X Allele 1 | 45321-7 |
| 0050558 | Fragile X Allele 2 | 45322-5 |
| 0050559 | Fragile X Methylation Pattern | 41107-4 |
| 0050579 | Fragile X Interpretation | 36913-2 |
| 2001310 | FRAG X Specimen | 66746-9 |
* 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
- Inherited Mental Retardation (Fragile X (FMR1) Diagnostic)
- Martin-Bell Syndrome (Fragile X (FMR1) Diagnostic)
Fragile X (FMR1) with Reflex to Methylation Analysis
