Genetic mutation analysis for CATCH22 (DiGeorge syndrome critical region) using whole blood DNA
This test checks for specific genetic changes in your blood that may be linked to conditions like DiGeorge syndrome or other chromosomal abnormalities in the 22nd chromosome region.
["This test helps identify genetic variations that could influence health risks or guide treatment planning."]
Key facts at a glance
- LOINC
- 41114-0
- Short code
- CATCH22
- Synonyms
- CATCH22 gene Mut Anl Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA tube (lavender/purple top) for whole blood; sterile container for tissue specimens
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- molgen
- CPT
- 81405
- SNOMED
- 444008000
- Specimen volume
- 5-10 mL whole blood in EDTA tube; or tissue specimen as collected
- Stability
- Whole blood: Room temperature 24 hours, refrigerated (2-8°C) up to 7 days, frozen (-20°C) for long-term storage. DNA extracted from sample stable at -20°C for extended periods. Avoid repeated freeze-thaw cycles.
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 168–720 hours
- Order
- routine
Why This Test Might Be Ordered
Your healthcare provider may recommend this test if you have symptoms of genetic conditions, a family history of chromosomal abnormalities, or if genetic counseling suggests testing for CATCH22-related mutations. It may also be part of prenatal or preimplantation genetic testing in certain cases.
How the Test Works
A small blood sample is collected to extract DNA. Specialized laboratory techniques analyze this DNA to detect mutations in the critical region of chromosome 22 associated with CATCH22 syndrome.
Sample Collection and Preparation
Whole blood is drawn from a vein, typically in the arm. The blood sample is processed to isolate DNA for genetic analysis. This process is usually quick and painless, with minimal discomfort.
What to Expect Before the Test
No special preparation is needed for this test. You may eat and drink normally before your blood draw. If you are pregnant or planning pregnancy, inform your healthcare provider before testing.
Reference range
Negative for CATCH22 syndrome gene mutations (TBX1, COMT, or 22q11.2 deletion). Nominal result reported as Detected or Not Detected.N/A
No special patient preparation required. Informed consent for genetic testing recommended. Genetic counseling prior to and following testing is advised.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Short name
CATCH22 Mutation Test (blood)
Frequently asked questions
What Does a Positive Test Result Mean?
Will This Test Show All Possible Genetic Conditions?
How Long Will It Take to Get 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