Chromosome Analysis (High Resolution) - Postnatal

TEST NAME:   Chromosome Analysis - Postnatal
Also known as:   Cytogenetics, Karyotyping by G-banding

INDICATIONS FOR TESTING:

  • Dysmorphic features
  • Multiple congenital abnormalities with or without intellectual disability
  • Infertility - see also Male Infertility Panel / Y Chromosome Microdeletion (YCMD)
  • Parent carrying a known chromosomal abnormality
  • Recurrent pregnancy losses (2 or more)
  • Short stature, including suspected Turner syndrome
  • Suspicion of a sex chromosome disorder, including Klinefelter syndrome
  • Suspicion of aneuploidy or polyploidy

TEST INFORMATION:   Standard methodology is used for G-banded high resolution chromosome analysis. Conventional cytogenetics (chromosome analysis) analyze the whole genome in a single assay.

ADVANTAGES:

  • Detects changes in chromosome number, including aneuploidy and triploidy
  • Characterizes both balanced and unbalanced structural rearrangements
  • Identifies large-scale deletions and duplications
  • Establishes the chromosomal orientation of genetic material
  • High resolution analysis (650 band length or higher)
  • Whole genome study

LIMITATIONS:

  • Requires mitotic (dividing) cells from a fresh specimen
  • Interrogates the genome at a lower level than technologies such as microarray

REQUIRED FORMS:   Postnatal Test Request Form

OTHER FORMS:   Request for Pre-Authorization for Genetic Testing (Postnatal Diagnoses on peripheral blood)


SPECIMEN COLLECTION & SHIPPING

SPECIMEN REQUIREMENTS:

  • Blood >3 mo of age: 3-5 ml in a sodium heparin tube (green top) 
  • Blood (newborn minimum requirement): 1 ml in a sodium heparin tube (green top)

CPT CODES:   88230(x2), 88261, 88280(x2), 88285(x3), 88289, 88291

PRICING:   Contact the laboratory billing staff for current costs 


TURN-AROUND-TIME:   Results are typically available in 7-14 days; 2-3 days for newborn studies. A preliminary verbal report on newborn studies can be available within 48 hours of specimen receipt.


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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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