Ulta Lab Tests

Chromosome Analysis, Blood

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The following is a list of what is included in the item above. Click the test(s) below to view what biomarkers are measured along with an explanation of what the biomarker is measuring.

Also known as: Chromosome Analysis Blood

Chromosome,Blood W/Refl

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The Chromosome Analysis, Blood test contains 1 test with 1 biomarker .

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, OR, SD or VT or test is performed in MA.

Clinical Significance

Chromosome Analysis, Blood - This test may assist with the detection of common chromosome abnormalities.

Question 1. Which chromosome disorders does this assay rule out?

This assay can rule out:

  1. Trisomies such as trisomy 21 (Down syndrome), trisomy 18, trisomy 13
  2. Sex chromosome abnormalities such as Turner (45,X) and Klinefelter (XXY) syndromes.
  3. Most rearrangements, including Robertsonian translocations, reciprocal translocations, and inversions
  4. Marker chromosomes
  5. Mosaicism at or above 14% (at a 95% confidence level)
  6. Most microscopically visible structural abnormalities

Question 2. Which disorders cannot be detected by this assay?

This assay cannot detect:

  1. Most microdeletion syndromes, including DiGeorge, Prader Willi, Angelman, Williams, and Smith Magenis
  2. Mosaicism below 14% (at a 95% confidence level)
  3. Single gene disorders such as fragile X syndrome, cystic fibrosis, Marfan syndrome, neurofibromatosis, etc.

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