Fragile X Syndrome Profile, Prenatal

CPT: 81243; 82106. If additional testing is performed, concomitant CPT codes/charges will apply.
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Test Details


  • Martin-Bell Syndrome

Test Includes

α-Fetoprotein; chromosome analysis; fragile X syndrome


Determination of fragile X status (affected or carrier) of the fetus. This test is recommended when an affected or carrier individual has already been identified in the family. Determination of fetal karyotype and prenatal diagnosis of Down syndrome or other chromosomal abnormalities. Also includes analysis of midtrimester amniotic fluid AFP for detection of open neural tube defects (ONTDs).


In situ culturing of fetal cells for the investigation of numerical and/or structural chromosome abnormalities; chemiluminescent immunoassay for AFP; DNA analysis for fragile X

Specimen Requirements


Amniotic fluid


20 to 30 mL

Minimum Volume

10 mL (Note: This volume may delay results due to slow growth.)


Sterile plastic conical tubes


Do not use urine containers or tubes with rubber stoppers; rubber is toxic to amniocytes.

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Specimen not amniotic fluid; gross contamination with red cells; frozen specimen; nonsterile container

Clinical Information

Special Instructions

Pertinent medical findings should accompany the test request form. Include name, age, and affected relatives. Indicate the gestational age (in weeks) on the test request form. The patient's gestational age must be at least 13 weeks for interpretation of amniotic fluid AFP. AChE false-positive and false-negative results are more frequent at gestational ages of less than 13 weeks.

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