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Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal

FX PCR FE
Example Reports
Full
Negative
Premutation

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Fetal Molecular Testing Patient History Form

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Additional Technical Information

Ordering Recommendation

Prenatal test for fetuses of mothers with fragile X premutations or full mutations.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Fetal Cultured Amniocytes AND Maternal Whole Blood Specimen : Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).

Specimen Preparation

Cultured Amniocytes: Transfer cultured amniocytes to two T-25 flasks at 80 percent confluence (Min: one T-25 flask at 80 percent confluence). Backup cultures must be retained at the client's institution until testing is complete. If ARUP receives a sample below the minimum confluence, Cytogenetics Grow and Send (ARUP test code 0040182) will be added on by ARUP, and additional charges will apply. If clients are unable to culture specimens, Cytogenetics Grow and Send should be added to initial order.
Maternal Whole Blood Specimen: Transport 2 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Cultured Amniocytes: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of collection due to viability of cells.
Maternal Whole Blood Specimen: Room temperature.

Unacceptable Conditions
Remarks

Methylation patterns may not be fully established in early gestation; thus, methylation testing performed on chorionic villus samples may not distinguish between premutation and full mutation alleles.

Stability

Cultured Amniocytes: Room temperature: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Whole Blood Specimen: Room temperature: 7 days; Refrigerated: 1 month; Frozen: Unacceptable

Methodology

Polymerase Chain Reaction (PCR)/Capillary Electrophoresis

Performed

Varies

Reported

9-10 days
If culture is required, an additional 1 to 2 weeks is required for processing time.

Reference Interval

By report

Interpretive Data

Refer to report.


Phenotype Number of CGG Repeats
Unaffected < 45
Intermediate 45-54
Premutation 55-200
Affected >200

Compliance Category

Laboratory Developed Test (LDT)

Note

If a CGG repeat of 55 or greater is detected by PCR and capillary electrophoresis, methylation analysis will be added. Additional charges apply.

Hotline History

View 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
08/19/2024
X
X
X
N/A

CPT Codes

81243; 81265 Fetal Cell Contamination (FCC); if reflexed, add 81244

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Components

Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050556 Fragile X Allele 1 45321-7
0050558 Fragile X Allele 2 45322-5
0050559 Fragile X Methylation Pattern 41107-4
0050612 Maternal Contam Study, Maternal Spec 66746-9
0051389 Fragile X Fetal Specimen 66746-9
2010041 Fragile X Interpretation, Fetal 36914-0
* 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

  • Cytogenetics, High Resolution & Fragile X DNA (Fragile X (FMR1) Diagnostic, Fetal)
  • High Resolution & Fragile X DNA (Fragile X (FMR1) Diagnostic, Fetal)
  • Inherited Mental Retardation (Fragile X (FMR1) Diagnostic, Fetal)
  • Martin-Bell Syndrome (Fragile X (FMR1) Diagnostic, Fetal)
Fragile X (FMR1) with Reflex to Methylation Analysis, Fetal