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Genetic mutation analysis for SH2D1A gene (whole blood)

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

This test checks for mutations in the SH2D1A gene, which may be linked to certain immune system conditions.

Quick summary

["Assessing genetic variations in SH2D1A can help diagnose or monitor conditions affecting immune function."]

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

Key facts at a glance

LOINC
35742-6
Short code
SH2D1A gene Mut Anl Bld/T
Synonyms
SH2D1A gene Mut Anl 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

What This Test Measures

The SH2D1A gene plays a role in immune signaling. Mutations in this gene can be associated with rare genetic disorders that affect how your immune system functions. This test examines DNA from your blood to identify any changes (mutations) in the SH2D1A gene sequence.

Why It Might Be Ordered

Your healthcare provider may recommend this test if you have symptoms or a family history suggestive of an immune disorder, such as severe combined immunodeficiency (SCID) or other genetic immune deficiencies. It could also be used for genetic counseling or pre-implantation genetic testing.

Sample Collection and Preparation

A blood sample is collected from a vein in your arm. This sample is then processed to extract genetic material (DNA) for analysis. No special preparation is needed, but fasting may not be required.

What to Expect Before the Test

You may experience mild discomfort or bruising at the injection site, but the procedure itself is quick and generally well-tolerated. If you have a blood disorder or take certain medications, inform your healthcare provider beforehand.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Mutations in the SH2D1A gene can lead to immune system dysfunction, potentially causing recurrent infections, autoimmune reactions, or other health issues. Early detection can guide treatment plans, including targeted therapies or genetic counseling for families at risk.

Short name

SH2D1A Gene Mutation Test

Frequently asked questions

What does a positive result mean?
A positive result indicates the presence of a mutation in the SH2D1A gene. This may confirm a diagnosis of a genetic immune disorder or help identify carriers in family planning. Results will be interpreted by a healthcare provider in the context of your symptoms and medical history.
How soon will I get my results?
Results are typically available within 2 to 4 weeks, depending on laboratory processing times. Your healthcare provider will discuss the results with you and explain next steps.
Can lifestyle changes affect this test?
No specific lifestyle changes are required for this genetic test. However, if you have ongoing health conditions or take medications, always inform your healthcare provider before testing.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

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