Chromosomal Microarray Analysis (FISH-based) for Deletion on Chromosome 17p11.2
This test detects a small genetic deletion on chromosome 17p11.2, which may be linked to certain genetic conditions. It uses fluorescent in situ hybridization (FISH) to examine blood cells.
["This test helps identify genetic changes that could influence health risks or symptoms related to rare genetic disorders."]
Key facts at a glance
- LOINC
- 82241-1
- Short code
- Chr 17p11.2 Del Amn/CVS FISH
- Synonyms
- Chr 17p11.2 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 the presence of a missing segment (deletion) on a specific region of chromosome 17, known as 17p11.2. Chromosomes are structures within cells that contain genetic material. Deletions in this region can sometimes be associated with conditions like Smith-Magenis syndrome or other genetic disorders.
How the Test Works
Blood samples are collected and analyzed using FISH, a technique that uses fluorescent probes to attach to specific parts of chromosomes. If the deletion is present, the probes will light up differently than expected, indicating the missing genetic material.
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, behavioral issues, or specific physical features. It may also be used in prenatal testing or genetic counseling scenarios.
Sample Collection and Preparation
A simple blood draw is typically used to collect the sample. The blood is processed to isolate cells, which are then examined under a microscope with fluorescent markers to detect the deletion.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Deletions in the 17p11.2 region can be associated with a range of genetic conditions. While some individuals may have no symptoms, others may experience developmental delays, intellectual disabilities, behavioral challenges, or distinctive facial features. Genetic counseling can provide more detailed information based on your specific situation and family history.
Short name
17p11.2 Deletion FISH Test
Frequently asked questions
What are the possible symptoms or conditions linked to this deletion?
Is this test usually done on newborns or adults?
How long does it take to get the results?
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