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Fragile X Test (Symptomatic/family history)

Important Note

Carrier screening for individuals with a family history of fragile X syndrome, fragile X-related disorders (primary ovarian insufficiency, or late-onset ataxia), or unexplained intellectual disabilities, developmental delay, or autism.

 

Diagnostic testing for:

  • Fetal specimens
  • Individuals with unexplained intellectual disabilities, developmental delay, or autism 
  • Women with primary ovarian insufficiency or failure, premature menopause, or infertility associated with elevated FSH levels before the age of 40 with no known cause 
  • Individuals with late-onset intention tremor and/or cerebellar ataxia of unknown origin 

Department

Integrated Genetics (Genzyme)

Specimen Type

Blood

Method

Highly sensitive PCR analysis and Southern blot hybridization performed on all samples at the same time.

Container

Lavender-top (EDTA) tube

Yellow-top (ACD-A)

Standard Volume

10 mL

Minimum Volume

5 mL

Pediatric Volume

n/a

Ship Temperature

Room Temp

Stability Refrigerated

n/a

Stability Room Temp

Refer to Integrated Genetics website.

Stability Frozen

n/a

CPT Codes

81243, 81244