Genetic TestsFragile X Syndrome (PCR)

• Test Name: Fragile X Syndrome (PCR)
• Test Code: 4803

• Fragile X syndrome (OMIM #: 300624) || Gene: FMR1 (OMIM #: 309550)
• Fragile X tremor/ataxia syndrome (OMIM #: 300623)
• Premature ovarian failure 1 (OMIM #: 311360)

• FRAGILE X MENTAL RETARDATION PROTEIN; FMRP
• FMR1 Gene CGG Repeat Increase

• Methodology: PCR
• Performed: Tuesday
• Reported: 1 week

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Neurogenetics