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16p112chromdeldupbldt

Published: August 9, 2026Updated: August 16, 2026

A genetic test that detects deletions or duplications in the 16p11.2 region of chromosome 16, used to diagnose associated neurodevelopmental disorders.

Quick summary

{"Detects deletions or duplications in the 16p11.2 chromosome region","Helps diagnose autism, intellectual disability, and developmental delays","Performed on a blood sample using molecular genetic methods","Results aid in guiding treatment and family planning decisions"}

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
61106-1
Short code
16p11.2
Synonyms
16p11.2 chrom Del+Dup Bld/T
Category
chemistry
Sample
whole-blood
Container
EDTA tube (purple top) - K2 EDTA or K3 EDTA
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
≥ 0 years
Method
molgen
CPT
81228
SNOMED
129300006
Specimen volume
3-5 mL whole blood (minimum 1 mL for pediatric patients)
Stability
Room temperature (20-25°C): 24-72 hours; Refrigerated (2-8°C): 5-7 days. Do not freeze whole blood. Transport at room temperature preferred.
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
336–504 hours
Order
routine

What is this test?

The 16p11.2 deletion/duplication test is a genetic test that looks for missing (deletion) or extra (duplication) genetic material in a specific region of chromosome 16, known as p11.2. This test uses molecular genetics methods to analyze your DNA from a blood sample. The 16p11.2 region contains several genes that are important for brain development and function.

Why might I need this test?

Your doctor may recommend this test if you or your child shows signs of neurodevelopmental disorders, particularly autism spectrum disorder (ASD), intellectual disability, developmental delay, speech problems, or behavioral issues. This test is also useful when there is a family history of genetic conditions or when other genetic tests have not provided a clear diagnosis.

What do the results mean?

A deletion in the 16p11.2 region means a piece of genetic material is missing, while a duplication means there is extra genetic material. Both can affect how the brain develops and functions. Not everyone with a 16p11.2 deletion or duplication will have symptoms—the effects can vary widely even among family members. Your healthcare provider will interpret your results in the context of your symptoms and family history.

How is the test performed?

A healthcare professional will draw a blood sample from a vein in your arm. The sample is then sent to a laboratory where technicians extract DNA and analyze the 16p11.2 region using specialized molecular genetic techniques such as chromosomal microarray analysis (CMA) or quantitative PCR. The test typically takes several weeks for results.

Reference range

No deletion or duplication detected in the 16p11.2 chromosome region. Result: Negative.N/A

Specimen: whole-blood

No special preparation required. Provide clinical indication and family history when ordering. Informed consent may be required depending on institutional policy.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Frequently asked questions

Is this test painful?
The test involves a simple blood draw, which may cause brief discomfort or a minor bruise at the needle site. No special preparation is needed before the test.
Will my insurance cover this test?
Coverage varies by insurance plan. Many insurers cover genetic testing when recommended by a healthcare provider for diagnostic purposes. We recommend contacting your insurance company to verify coverage before the test.
Can children undergo this test?
Yes, this test can be performed on individuals of any age, including children. It is often ordered when a child shows signs of developmental delays, autism features, or other neurological symptoms.
What happens if a deletion or duplication is found?
If a pathogenic variant is found, your doctor may refer you to a genetic counselor or specialist for follow-up. They will discuss the implications for your health, management options, and family members who may also benefit from testing.
Are there risks to having this test?
The risks are minimal and limited to those associated with routine blood draws, such as slight bleeding, bruising, or infection at the puncture site. There are no physical health risks from knowing your genetic information.
  1. 1
    Genetics Home Reference - 16p11.2 deletion syndromeSource
  2. 2
    NIH - Chromosomal Microarray AnalysisSource
  3. 3
    Autism Speaks - 16p11.2 ResearchSource

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.

Medical Disclaimer

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