Fragile X (FMR1) DNA Analysis with Reflex to Methylation Analysis

Molecular Diagnostics:DNA

Test ID/Workstation: FXDNZ PATH

Specimen Type: Whole Blood

Tube Type: Purple top (EDTA) tube

Collection Volume: 3.0 mL (minimum 1.0 mL)

Cause for rejection: Specimen clotted, stored at room temperature, > 5 days old; improper anticoagulant.

Storage: Refrigerated

Availability: Mon-Fri

Methodology: Polymerase Chain Reaction (PCR), Capillary Electrophoresis

Special Instructions: Please indicate reason for testing (e.g. family history, suspected diagnosis, carrier testing). Samples with full mutation and premutations will be reflexed to Methylation Analysis at an additional charge.

Lab/Phone: 330-543-8722

TAT: 10-14 days

Additional Info: Reference range is available on patient report

CPT Code: 81243, (81244 if reflexed)

Synonyms: Martin-Bell Syndrome, FRAXA

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