Fragile X Mutation (FMR1) Molecular Detection Build info

Synonyms	FRAGILE X CASE FRX DNA LAB11647
Short Name	FRAGILE X CASE
Procedure Master Number	LAB11647
Procedure ID	115609
Clinical Info	Fragile X syndrome is the most common inherited cause of mental retardation. The syndrome occurs in approximately 1 in 3600 males and 1 in 4000 to 6000 females. People with Fragile X can present macroorchidism and distinct facial features, including long face, large ears, and prominent jaw.
Specimen Type	Blood
Container	Lavender Top Tube
Collection Instructions	Container/Tube: Lavender-top (EDTA) tube Specimen: 1-3 mL of peripheral Blood Transport Temperature: Room Temperature Additional Information: A signed Patient Consent Form is required.
Transport Instructions	Room Temperature
Specimen Stability	Specimens are stable for a week refrigerated.
Methodology	Polymerase Chain Reaction (PCR) followed by Capillary Electrophoresis
Days Performed	Monday through Friday TAT: 8 Calendar days
Performing Laboratory	Northwell Health Laboratories
CPT	81243
PDM	5160403
Results

Synonyms