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Adagenefullmutanlbldt

Published: August 9, 2026Updated: August 16, 2026

This test looks for changes (mutations) in the ADA gene to help diagnose adenosine deaminase deficiency, a rare immune system disorder.

Quick summary

{"The test uses a blood sample to analyze the ADA gene for mutations","It helps diagnose a form of severe combined immunodeficiency (SCID)","Results can guide treatment decisions for immune system disorders","Testing is often recommended for infants with recurrent infections","Results are typically available within 2-4 weeks"}

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
101392-9
Short code
ADA Full Mutation
Synonyms
ADA gene Full Mut Anl Bld/T
Category
chemistry
Sample
whole-blood
Container
EDTA (purple-top) tube for whole blood; alternatively, ACD (yellow-top) tube or tissue specimen in sterile container
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
≥ 0 years
Method
molgen
CPT
81403 - Molecular pathology procedure, Level II (gene-specific sequencing)
SNOMED
371561004 - Adenosine deaminase measurement (procedure); 129300006 - Genetic test (procedure); 236190004 - Gene mutation analysis (procedure)
Specimen volume
2-5 mL whole blood minimum; 5-10 mL preferred for optimal DNA yield
Stability
Room temperature (20-25°C): 24-72 hours; Refrigerated (2-8°C): up to 7 days; Frozen (-20°C or below): indefinite for DNA extracted from blood. Avoid repeated freeze-thaw cycles
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
336–672 hours
Order
routine

What is this test?

The ADA gene full mutation analysis is a genetic test that examines the ADA (adenosine deaminase) gene in your DNA. This gene provides instructions for making an enzyme that is essential for the proper function of the immune system. The test looks for all known mutations (changes) in this gene that can cause ADA deficiency, a rare inherited disorder that severely weakens the immune system.

Why is this test performed?

This test is primarily performed to diagnose ADA deficiency, also known as Severe Combined Immunodeficiency (SCID) due to ADA deficiency. Doctors may recommend this test for: newborns with positive newborn screening results for SCID, individuals with recurrent or unusual infections, patients with family history of ADA deficiency, and to confirm a diagnosis when symptoms suggest an immune system disorder.

How is the test done?

A healthcare provider will collect a small sample of your blood, usually from a vein in your arm. In some cases, a tissue sample may also be used. The sample is then sent to a laboratory where scientists extract DNA and analyze the ADA gene for specific mutations using advanced molecular genetic techniques. The test does not require fasting or special preparation.

What do the results mean?

Results can show: No mutations found (negative) - meaning the ADA gene appears normal; Mutations found (positive) - indicating ADA deficiency or carrier status; Variants of uncertain significance - where the impact of the detected change is not clear. Your doctor will interpret the results in the context of your symptoms and medical history to determine the next steps in your care.

What are the risks?

The blood draw for this test carries minimal risks, including slight pain, bruising, or bleeding at the puncture site. In rare cases, fainting or infection may occur. There are no significant health risks from the test itself. However, genetic testing may have emotional, financial, or social implications that you should discuss with a genetic counselor before and after testing.

Reference range

No pathogenic variants detected in the ADA gene coding regions and splice sites. Reference sequence: NM_000022.3N/A

Specimen: whole-blood

No special preparation required. Inform patient that this is a genetic test that may have implications for family members. Genetic counseling may be recommended before and after testing

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Frequently asked questions

How long does it take to get results?
Results from ADA gene mutation analysis typically take 2-4 weeks. The complex molecular techniques require specialized laboratory processing and analysis.
Do I need to fast before this test?
No, you do not need to fast before this test. You can eat and drink normally before having your blood drawn.
Will my insurance cover this genetic test?
Coverage varies by insurance plan. Many plans cover genetic testing when it is medically necessary. It is recommended to check with your insurance provider beforehand to understand your coverage and any out-of-pocket costs.
What happens if I test positive for ADA mutations?
If you test positive for ADA gene mutations, your doctor will discuss treatment options with you. Treatment may include enzyme replacement therapy (PEG-ADA), hematopoietic stem cell transplantation, or gene therapy. Early treatment is crucial for the best outcomes, especially in infants.
Should my family members also be tested?
Your doctor may recommend genetic testing for your family members, especially your parents, siblings, and children. This helps determine if other family members are carriers or may be affected by ADA deficiency. A genetic counselor can help you understand the implications for your family.
What is the difference between full mutation analysis and targeted mutation testing?
Full mutation analysis looks at the entire ADA gene for all known mutations, providing comprehensive results. Targeted mutation testing only checks for specific, known mutations. Full analysis is typically recommended when there is no known family mutation or when initial testing was inconclusive.
  1. 1
    Genetics Home Reference - ADA deficiencySource
  2. 2
    National Institutes of Health - Severe Combined ImmunodeficiencySource
  3. 3
    Mayo Clinic Laboratories - ADA Gene Mutation AnalysisSource

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.

Medical Disclaimer

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