Test Name & Code:
• Test Name: Fragile X Repeat Analysis
• Test Code: 2318
• Test Code: 2318
Related Diseases & Genes:
• Fragile X syndrome (OMIM #: 300624) || Gene: FMR1 (OMIM #: 309550)
• Fragile X tremor/ataxia syndrome (OMIM #: 300623)
• Premature ovarian failure 1 (OMIM #: 311360)
• Fragile X tremor/ataxia syndrome (OMIM #: 300623)
• Premature ovarian failure 1 (OMIM #: 311360)
Synonyms:
• FRAGILE X MENTAL RETARDATION PROTEIN; FMRP
• FMR1 Gene CGG Repeat Increase
• FMR1 Gene CGG Repeat Increase
Test Details:
• Methodology: Fragment Analysis; Southern Blot
• Performed: Tuesday
• Reported: 4 weeks
• Performed: Tuesday
• Reported: 4 weeks
Specimen Details:
• 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
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Neurogenetics
