Chromosomal Microarray Analysis for Deletion on Chromosome 16p13.3 (Array-Based Comparative Genomic Hybridization)
This test detects small genetic changes (deletions) on chromosome 16p13.3, which may be linked to certain genetic conditions. It uses a specialized DNA analysis method to compare your genetic material with a reference sample.
["This test helps identify rare genetic variations that could influence health risks or symptoms in some individuals."]
Key facts at a glance
- LOINC
- 82240-3
- Short code
- Chr 16p13.3 Del Amn/CVS FISH
- Synonyms
- Chr 16p13.3 Del Amn/CVS FISH
- Category
- chemistry
- Sample
- fluid
- Container
- Sterile tube
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- fish
- Specimen volume
- 2-5 mL
- Stability
- Room temperature: 2h, Refrigerated: 24h
- Hemolysis max
- 300
- TAT
- 4–24 hours
- Order
- routine
What This Test Measures
The test looks for missing genetic material (deletions) in a specific region of chromosome 16, known as 16p13.3. Chromosomes are structures in cells that carry genes, and deletions in this region have been associated with certain genetic disorders or developmental conditions in some cases. This test uses a technique called array-based comparative genomic hybridization (aCGH) to compare your DNA with a standard reference.
Why It Might Be Ordered
Your healthcare provider may recommend this test if you or a family member have symptoms suggestive of a genetic condition, such as developmental delays, intellectual disability, or specific physical features. It may also be used in prenatal testing if there is a family history of genetic disorders linked to this chromosomal region.
How the Test Works
A small sample of your blood (whole blood) is collected and processed to extract DNA. Fluorescent probes are attached to specific DNA sequences in the 16p13.3 region. These probes bind to matching DNA segments, and the test measures the intensity of fluorescence to detect any deletions or other changes in the genetic material.
Preparation and Sample Collection
No special preparation is needed for this test. A healthcare provider will collect a blood sample, typically from a vein in your arm. The sample is then sent to a laboratory for analysis.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Deletions in the 16p13.3 region have been linked to rare genetic syndromes, such as Williams syndrome variants or other developmental disorders. While many people with these deletions do not show symptoms, some may experience challenges with learning, behavior, or physical growth. Early identification can help guide management and support strategies tailored to individual needs.
Short name
16p13.3 Microdeletion Screen
Frequently asked questions
What Does a Positive Result Mean?
What Does a Negative Result Mean?
How Often Should I Get This Test Retested?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy