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Test #


Test CPT Codes

88230, 88261 or 88262, 88289

Chromosome Analysis for Constitutional Disorders

Test Type

Constitutional Genetics (Biochemical & Molecular Genetics)

Test Disease / Components

Developmental delay, multiple anomalies, and autism-spectrum disorders. Lymphomas. Can also be ordered on parents to determine if a copy number variant in a child is inherited or de novo.

Test Technology


Clinical Utility


Test Specimen

Specimen Type:

Peripheral Blood:

  • Adult - 3-5 mL drawn into a GREEN top sodium heparin vacutainer tube. Do NOT use lithium heparin.

  • Child - 1-2 mL, as above.

  • Infant - 1-2 mL, as above.

Rejection Criteria:

  • Frozen or fixed specimens

Storage, Stability & Shipping

Sample Stability:

  • Ship samples at room temperature (do not freeze or fix).  Specimen viability decreases during transit, ship day of collection when possible.  Specimen optimum if received within 48 hours.

Test Storage

  • Store room temperature if shipped within 2 days.  Store refrigerated when unable to ship immediately.  Specimen viability decreases with each day of storage.

Turnaround Time (TAT)

7-10 Days

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