Chromosomal Microarray Analysis (CMA) for Deletion on Chromosome 7q11.23
This test detects a small deletion on a specific region of chromosome 7, which may be linked to certain genetic conditions. It uses a specialized DNA analysis method to identify missing genetic material.
["This test helps identify genetic changes that could influence health risks or explain unexplained symptoms."]
Key facts at a glance
- LOINC
- 82247-8
- Short code
- Chr 7q11.23 Del Amn/CVS FISH
- Synonyms
- Chr 7q11.23 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 a deletion (missing genetic material) in the 7q11.23 region of chromosome 7. Chromosomes are structures that carry your genes, and small changes in their structure can sometimes cause health issues. This test uses fluorescent in situ hybridization (FISH) to compare genetic material from your blood sample with known reference samples.
Why It Might Be Ordered
Your healthcare provider may recommend this test if you have symptoms or conditions associated with genetic disorders linked to this chromosomal region, such as developmental delays, intellectual disability, or specific physical features. It may also be used in prenatal testing or for genetic counseling when other tests are inconclusive.
Sample Collection and Process
A small blood sample is typically taken from your arm. The genetic material (DNA) is extracted from the blood cells and analyzed using a fluorescent probe that binds to the specific region of chromosome 7. The results are compared to a standard to identify any deletions.
Interpreting Results
Results are reported as either 'positive' (deletion detected) or 'negative' (no deletion found). A positive result means there is a deletion in the specified region, which may require further evaluation by a genetic counselor or specialist.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Deletions in the 7q11.23 region are associated with conditions like Williams syndrome, which can cause developmental delays, distinct facial features, and heart or kidney issues. Early identification can guide treatment plans, support, and monitoring tailored to your needs.
Short name
Chromosome 7 Microdeletion Screening
Frequently asked questions
What Does a Positive Result Mean?
How Often Should I Get This Test?
Can This Test Be Done During Pregnancy?
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