Standard karyotype (pediatric)

Test #:

200

Turnaround Time:

7-14 days (STAT preliminary verbal result for newborn patients in 3 days with final report in 7 days)

Specimen Requirements:

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

  • Peripheral blood: 3-5 mL NaHep
CPT Codes:

88230 x2, 88262 x1, 88291 x1

Ordering Requirements:
Clinical Utility:
  • Patients with a known or suspected family history of a chromosome abnormality detectable by karyotype.
  • Known or suspected diagnosis of trisomies or other large structural chromosomal abnormality.
  • Congenital abnormalities and/or developmental delay.1
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.

Footnotes:
  1. Microarray analysis (test 100) is recommended as a first-tier test prior to a karyotype.
  2. This test may be performed at a partner lab of Allele Diagnostics.

     
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