Deletion Analysis of Chromosome 5q12.35 Region (Genetic Testing)
This test checks for a missing or altered section of genetic material on chromosome 5, specifically in the 5q12.35 region. It may be used to diagnose or monitor conditions linked to genetic deletions.
["This test helps identify genetic variations that could affect health or disease risk."]
Key facts at a glance
- LOINC
- 42715-3
- Short code
- Del(5)(q12-35) Del Bld/T
- Synonyms
- Del(5)(q12-35) Del Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- Specimen volume
- 3 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 4–24 hours
- Order
- routine
Why This Test Might Be Ordered
Your healthcare provider may recommend this test if you or a family member have symptoms or a history of conditions associated with deletions in chromosome 5q12.35, such as certain genetic disorders or developmental issues. It could also be part of prenatal testing, genetic counseling, or carrier screening.
How the Test Works
The test involves analyzing a sample of your blood (whole blood) to detect genetic material changes. Advanced laboratory techniques, such as high-resolution molecular analysis, identify the presence or absence of the specific chromosome region.
Sample Collection and Preparation
A blood sample will be collected by a healthcare professional. This sample is then processed and sent to a specialized laboratory for genetic analysis. You may be asked to follow specific instructions, such as fasting or avoiding certain medications, depending on the test protocol.
What to Expect Before the Test
Before the test, your healthcare provider will discuss the purpose, risks, and benefits with you. You may need to provide medical history, family history, or other relevant information to help guide the testing process.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Deletions in the 5q12.35 region may be linked to rare genetic disorders, including some forms of intellectual disability, developmental delays, or other congenital conditions. Identifying this deletion can help confirm a diagnosis, guide treatment plans, and inform family planning decisions. It may also assist in understanding inherited traits or predispositions to certain health conditions.
Short name
Chromosome 5q12.35 Deletion Test
Frequently asked questions
What does a positive result mean?
What does a negative result mean?
How often should I get this test?
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