Prenatal Microarray

TEST NAME:   Prenatal Microarray

INDICATIONS FOR TESTING:

  • Abnormal ultrasound findings
  • Abnormal screening tests
  • Family history of a genetic or chromosomal anomaly that is detectable my microarray

  • History of pregnancy loss

TEST INFORMATION:

ADVANTAGES:

  • Evaluates hundreds of genetic conditions across the genome with one test
  • Detects aneuploidy (including trisomy and sex chromosome abnormalities) and triploidy
  • Identifies deletions and duplications in regions known to be associated with well-characterized microdeletion and microduplication syndromes
  • Provides enriched coverage of subtelomeric regions, often undetectable by traditional chromosome analysis
  • More comprehensive than individual FISH tests
  • Often allows for results on suboptimal specimens for which chromosome analysis is not feasible

LIMITATIONS:

  • Cannot identify all genetic conditions or the cause of all fetal anomalies in a pregnancy
  • Does not detect changes in the DNA sequence of genes
  • Cannot detect balanced chromosome rearrangements (a complementary test such as Prenatal Chromosome Analysis should be performed to detect balanced chromosome rearrangements)
  • Unable to reliably detect all cases of mosaicism

RESULTS:

  • A normal result indicates no clinically-significant chromosome anomalies were identified.
  • An abnormal or pathogenic result indicates that a clinically-significant chromosome anomaly was identified in the fetus.
  • Our Prenatal Microarray is designed to identify clinically-relevant anomalies. However, in rare cases, a reportable anomaly may be identified for which a definitive classification (i.e., normal or abnormal) is not possible. In those cases, these anomalies will be reported as variants of uncertain clinical significance.
  • Parental testing may be recommended in order to clarify whether the result is de novo or familial for the purpose of recurrence risk calculation.

TESTING NOTES:

  • Prenatal Microarray does NOT analyze the mother’s chromosomes. If desired, Postnatal Chromosome Analysis on maternal blood can be ordered separately.
  • Prenatal Microarray can be completed concurrently with Prenatal Chromosome Analysis or as a reflex if chromosome analysis does not identify an abnormality.

REQUIRED FORMS:   Prenatal and Pregnancy Loss Test Request Form

OTHER FORMS:   Request for Pre-Authorization for Genetic Testing (Prenatal Diagnoses)


SPECIMEN REQUIREMENTS: 

  • Amniotic Fluid: 10 - 15 ml amniotic fluid in 2 sterile tubes
    • PLUS Prenatal FISH: collect an additional 5 ml (15-20 ml total needed to perform Prenatal Microarray and FISH)
    • PLUS Prenatal Chromosome Analysis: collect an additional 15-20 ml (25-35 ml total needed to perform Prenatal Microarray and Prenatal Chromosome Analysis)
  • Chorionic Villi Sampling (CVS): 10-20 mg in (sterile) villi in tissue culture media

SPECIMEN COLLECTION & SHIPPING


CPT CODES:

  • Amniotic Fluid / CVS / Fetal Fluid: 81229, 88235

PRICING:   Contact the laboratory billing staff for current costs.


TURN AROUND TIME:   Results are typically available in 1-2 weeks.


LINKS and REFERENCES:


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contact us
Phone:  402-559-5070 
1-800-656-3937 x95070
Fax:  402-559-7248
humangenetics@unmc.edu

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