Karyotype - Ambry Genetics

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Clinical Genomics

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Karyotype

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.

Karyotype Genetic Testing | Hereditary Disorders

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.

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

Genes analyzed

3660

Chromosome analysis

7-21 days

Whole Genome

3662

Chromosome analysis – mosaicism study

7-21 days

Whole Genome

Chromosome analysis

Whole Genome

Whole Genome

Whole Genome

Chromosome analysis – mosaicism study

Whole Genome

Whole Genome

Whole Genome

Test Requisition Form

Comprehensive

Consent

Patient

We offer family variant testing at no additional cost

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing, exome testing, or whole genome testing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 180 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.