Inpatient and Outpatient Orderable

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 Sources

 Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

 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

Only Orderable at Locations:

 Orderable Everywhere

Results