1pchromdelbldtql
A genetic test that detects deletions on the short arm of chromosome 1 using molecular genetics methods.
{"This test looks for missing genetic material on chromosome 1p","It helps diagnose genetic conditions like 1p36 deletion syndrome","Sample is collected from blood or tissue","Results help guide diagnosis and treatment decisions","Genetic counseling may be recommended before and after testing"}
Key facts at a glance
- LOINC
- 45180-7
- Short code
- 1p36del
- Synonyms
- 1p Chrom Del Bld/T Ql
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA (purple top) tube for blood sample or sterile tissue container for tissue样本
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- molgen
- CPT
- 88274
- SNOMED
- 129688006
- Specimen volume
- 2-5 mL whole blood
- Stability
- Room temperature: 24 hours; Refrigerated (2-8°C): 48-72 hours. Store at 4°C and transport to laboratory promptly.
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 168–504 hours
- Order
- routine
What is this test?
The 1p chromosome deletion test is a genetic test that detects whether a portion of the short arm (called the 'p' arm) of chromosome 1 is missing. Chromosomes are structures in our cells that carry genetic information. A deletion means a piece of genetic material is absent. This test uses molecular genetics methods to analyze your DNA and determine if this deletion is present.
Why might I need this test?
Your healthcare provider may order this test if you or your child has signs and symptoms suggestive of a chromosome 1p deletion, such as developmental delays, intellectual disabilities, distinctive facial features, heart defects, or other health problems. It may also be used to help diagnose certain types of cancer or to confirm a suspected genetic condition.
How is the test performed?
A sample is collected from your blood or from a tissue sample. For blood, a healthcare professional will draw blood from a vein in your arm. The sample is then sent to a laboratory where technicians use molecular genetics techniques to analyze the DNA and detect whether the 1p deletion is present.
What do the results mean?
Results are typically reported as 'Detected' (deletion is present) or 'Not Detected' (deletion is not present). If a deletion is found, the specific size and location may be characterized. Your healthcare provider or a genetic counselor will explain what the results mean for your health and any implications for your family.
Reference range
Negative for 1p36 deletion - No deletion detected in the sampleN/A
No fasting required. No special preparation needed. Inform laboratory of any recent blood transfusions as this may affect results.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Frequently asked questions
Is this test painful?
How long does it take to get results?
Will my insurance cover this test?
Do I need to fast before this test?
Can this test tell me about my family members?
Sources
- 1
- 2
- 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