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

Synonyms

  • Martin-Bell Syndrome

Test Includes

α-Fetoprotein; chromosome analysis; fragile X syndrome

Use

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).

Methodology

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

Specimen

Amniotic fluid

Volume

20 to 30 mL

Minimum Volume

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

Container

Sterile plastic conical tubes

Collection

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.

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
511575 Fragile X Profile, Prenatal 010806 AFP, Amniotic Fluid N/A
511575 Fragile X Profile, Prenatal 101352 AFP Value ug/mL 1832-5
511575 Fragile X Profile, Prenatal 101360 AFP MoM 29253-2
511575 Fragile X Profile, Prenatal 101379 Gestational Age(Wks) 49051-6
511575 Fragile X Profile, Prenatal 101378 Interpretation 41273-4
511575 Fragile X Profile, Prenatal 018274 Director 72486-4
511575 Fragile X Profile, Prenatal 999500 Amniotic Fluid, AFP N/A
511575 Fragile X Profile, Prenatal 052138 Cells Counted 64095-3
511575 Fragile X Profile, Prenatal 052139 Colonies 64096-1
511575 Fragile X Profile, Prenatal 052140 Cells Analyzed 64092-0
511575 Fragile X Profile, Prenatal 052141 Cells Karyotyped 64091-2
511575 Fragile X Profile, Prenatal 052143 GTG Band Resolution Achieved 64093-8
511575 Fragile X Profile, Prenatal 052144 Cytogenetic Diagnosis 33773-3
511575 Fragile X Profile, Prenatal 052033 Cytogenetic Interpretation 64094-6
511575 Fragile X Profile, Prenatal 052146 Specimen Type 31208-2
511575 Fragile X Profile, Prenatal 052034 Director Review: 48672-0
511575 Fragile X Profile, Prenatal 052155 Chromosome, Amniotic Fluid N/A
511575 Fragile X Profile, Prenatal 510301 Fragile X DNA, Prenatal 21759-6
511575 Fragile X Profile, Prenatal 510070 Fragile X, DNA N/A
511575 Fragile X Profile, Prenatal 510236 Comment: N/A
Reflex Table for Interpretation
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 510206 AChE+Hb F 510172 Acetylcholinesterase 1708-7
Reflex Table for Interpretation
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 510206 AChE+Hb F 510180 Fetal Hemoglobin 28067-7
Reflex Table for Interpretation
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 510206 AChE+Hb F 510173 Interpretation 76479-5
Reflex Table for Fragile X DNA, Prenatal
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 510303 Fragile X Southern Blot, Prntl 510304 Fragile X Southern Blot, Prntl 45327-4

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