Standard karyotype for POC/stillbirth/demise

Test #:

202

Turnaround Time:

3-4 weeks

Specimen Requirements:

Specimens should be shipped at room temperature in a leak-proof, rigid container with overnight delivery. To discuss minimum acceptable specimens or for sample types not listed, please contact Allele Diagnostics.

Products of conception (POC): 15-20 mg in sterile media or saline

CPT Codes:

88233 x1 (POC), 88262 x1, 88280 x1, 88291 x1

Ordering Requirements:
Clinical Utility:
  • Fetal loss or stillbirth.
Test Description:

Chromosome analysis by karyotype.

Karyotype can identify numeric chromosomal abnormalities, large unbalanced and balanced structural abnormalities. Abnormalities larger than approximately 5-10 Mb can be visualized. Karyotype is useful in conjunction with microarray to identify balanced abnormalities, such as translocations and inversions, that microarray is not designed to detect. Standard blood karyotype study involves counting 20 cells, analyzing 5 cells, and karyotyping 3 cells. Additional cells are evaluated as indicated if mosaicism is suspected.

References:
  • American College of Obstetricians and Gynecologists. Practice Bulletin No. 162 Summary: Prenatal Diagnostics Testing for Genetic Disorders. Obstet Gynecol, 127(5):976-978 (2016). PubMed: 27101119
  • American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 581: The use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol, 122(6):1374-1377 (2013). PubMed: 24264715
Footnotes:
  1. Microarray analysis (test 110) is recommended as a first-tier test prior to karyotype.

  2. This test may be performed at a partner lab of Allele Diagnostics.

     
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