HLX Fragile X CASE HLX Fragile X CASE

Synonyms

Allscripts (AEHR) Order Name

Fragile X DNA Probe

Sunrise Clinical Manager (SCM) Order Name

Not Orderable

EPIC Order Name

Fragile X Mutation (FMR1) Molecular Detection

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

Result Interpretation

An interpretative report will be provided.

Forms

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