A karyotype is a test to evaluate the size, shape, and number of chromosomes. Extra or missing chromosomes, or abnormal positions of chromosome pieces, can cause problems with growth, development, and body functions. A karyotype is often a helpful test to determine the genetic contribution to a constellation of medical and/or developmental problems.

Karyotype requires minimum 4 cc whole blood in green top (sodium heparin).  At least one dedicated tube for karyotype is required. If requesting multiple test, please submit additional tubes.  Blood in EDTA or other specimen types cannot be processed for karyotype.

Quick Reference
Test Code: 3660 Test Name: Chromosome analysis TAT 7-21 days Whole Genome
Test Code: 3662 Test Name: Chromosome analysis - mosaicism study TAT 7-21 days Whole Genome

Ordering Options

We now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

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*excludes Secondary Findings and SNP Array tests

Test Description

G-banded karyotyping for the detection of numeric chromosome abnormalities, balanced and unbalanced chromosome rearrangements, and polyploidy.

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