Fragile X Syndrome
Also known as: Fragile X testing
Use
This test is used for carrier screening for fragile X syndrome (FMR1).
Special Instructions
To test fetal specimens, including cord blood, order Fragile X Syndrome, Fetal Analysis [481718]. Additionally, standard phlebotomy procedures apply for blood collection, and specific collection instructions should be followed for buccal swab and saliva kits. It is important to refrain from eating, drinking, smoking, or chewing gum 30 minutes prior to collection.
Limitations
Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants, or repeat expansions. Variant classification and/or interpretation may change with time if more information becomes available. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.
Methodology
PCR-based (PCR)
Biomarkers
Result Turnaround Time
8-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
8.5 mL
Minimum Volume
3 mL
Container
Yellow-top (ACD-A), lavender-top (EDTA), pink-top (EDTA) or tan-top (EDTA) tubes
Collection Instructions
Standard phlebotomy.
Patient Preparation
Do not eat, drink, smoke or chew gum 30 minutes prior to collection.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |