Important Note

Chromosome analysis (also known as Karyotype) has multiple options to order from Mayo Labs.  This list is for whole blood only and is not suggestive for Bone Marrow or Tissue.

Chromosome Microarray, Congenital, Blood

(Mayo Test Code: CMACB | Cerner Code: Misc Mayo GOKEY CMACB)

Primary Use: First-tier postnatal testing for individuals with:

• Multiple anomalies not specific to well-defined genetic syndromes

• Apparently nonsyndromic developmental delay or intellectual disability

• Autism spectrum disorders

• Secondary Use: Follow-up testing when conventional chromosome studies were previously normal in patients with unexplained developmental delay, intellectual disability, congenital anomalies, or autism spectrum disorders.

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Chromosome Analysis, Congenital Disorders, Blood

(Mayo Test Code: CHRCB | Cerner Code: Misc Mayo GOKEY CHRCB)

Useful For: Diagnosing congenital chromosome abnormalities such as:

• Aneuploidy

• Structural abnormalities

• Balanced rearrangements

• Indications Include:

• Infertility

• Recurrent miscarriage

• Delayed puberty

• Ambiguous genitalia

• Amenorrhea

• Clinical suspicion of chromosomal syndromes such as:

• Down syndrome

• Turner syndrome

• Klinefelter syndrome

• Trisomy 13

• Trisomy 18

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Chromosome Analysis, Hematologic Disorders, Blood

(Mayo Test Code: CHRHB | Cerner Code: Misc Mayo GOKEY CHRHB)

Useful For:

• Classification and follow-up of hematologic malignancies when bone marrow is not available

• Disorders such as leukemias and lymphomas where chromosomal abnormalities may guide diagnosis or treatment