Fragile X Molecular Analysis with Reflex to Methylation Testing
| Sunquest Code: | FRGXMD | CoPath Code: | FRAGX |
| Epic Code: | LAB3483 | Epic Name: | Fragile X Molecular Analysis |
| Sunquest Code (non-Epic sites): | FRAG X | ||
| Synonyms: | FMR1 Premutation | ||
| Methodology: | AmplideX FMR1 PCR kit (RUO) with a three-primer CGG Repeat Primed (RP) PCR. PCR fragments are sizing on an Applied Biosystems Genetic Analyzer with reflex to methylation status testing for FMR1 repeats of 55 or greater. | ||
| Turnaround Time: | Results are reported within 10-14 days. | ||
| Special Instructions: |
This molecular test analyzes only for the trinucleotide repeats in the Fragile-X gene. For molecular and chromosome studies, order Fragile-X Chromosome and Molecular Analysis and submit 5 mL of blood in a green (sodium heparin) tube for Cytogenetics and 10 mL in a yellow ACD (Solution A) tube for Molecular Diagnostics. Test should be ordered through a genetic counselor, or medical geneticist. Patient must be counseled regarding this test: Counseling is available through the Molecular Diagnostics genetic counselor at 612-624-8948. A signed informed consent in the patient's medical record is required; the consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors.
Bone Marrow Transplant Patients; If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostics lab to see if a pre-transplant sample is available.
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Collection Instructions
| Specimen: | Blood |
| Optimal Volume: | 10 mL |
| Minimum\Peds Volume: | 5 mL |
| Container: | Yellow (ACD, Solution A) tube available from laboratory |
| Causes for Rejection: | Frozen or clotted specimen, incorrect anticoagulant, specimen more than 5 days old. Patient only tested ONCE; if duplicate sample is collected, testing is canceled, credited and original results and collection date reported. Call 612-273-8445 with questions. Add on testing to hematology samples is not accepted. |
Processing and Shipping
| Specimen Processing: | Store at room temperature. |
| Shipping Instructions: | Ship at room temperature. Do not freeze. Must arrive within 24 hours. |
| Test Performed at or Referral Lab | Molecular Diagnostics (UMMC-East Bank) |
Interpretive
| Reference Range: | Normal, premutation, or affected. Methylation percentage reported for all positive alleles identified. See interpretive report. |
| Use: | The evaluation of x-linked mental retardation or confirmation of clinically diagnosed Fragile X syndrome. |
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