Genetic TestsAchondroplasia Mutation Analysis (FGFR3 Gene)

• Test Name: Achondroplasia Mutation Analysis (FGFR3 Gene)
• Test Code: 3101

• Achondroplasia (OMIM #: 100800) || Gene: FGFR3 (OMIM #: 134934)

• Methodology: PCR-RFLP
• Performed: Everyday
• Reported: 2 weeks

• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia

• Dysmorphology