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Laminin Alpha 1 Chain (LAMA1) Mutation Analysis (Qualitative)

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

This test checks for genetic changes in the LAMA1 gene, which may be linked to certain muscle or connective tissue disorders.

Quick summary

["This test helps identify possible genetic causes of rare muscle or connective tissue conditions."]

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

Key facts at a glance

LOINC
82343-5
Short code
F8 intron 1+22 Inv Mut Anl Amn/CVS
Synonyms
F8 intron 1+22 Inv Mut Anl Amn/CVS
Category
chemistry
Sample
fluid
Container
Sterile tube
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
Specimen volume
2-5 mL
Stability
Room temperature: 2h, Refrigerated: 24h
Hemolysis max
300
TAT
4–24 hours
Order
routine

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have symptoms like muscle weakness, joint pain, or a family history of conditions like muscular dystrophy or connective tissue disorders. It may also be used in genetic counseling or prenatal testing for certain inherited conditions.

What to Expect Before the Test

No special preparation is typically needed. Blood is drawn from a vein, usually in your arm. If testing is done on a sample collected earlier (like a blood donor sample), you may need to follow standard specimen handling instructions.

What the Test Results Mean

If mutations are found, they may indicate an increased risk for specific genetic disorders. If no mutations are detected, it means no obvious changes were identified in this particular test. Results should be interpreted by a healthcare provider in the context of your medical history and symptoms.

Common Conditions This Test Helps Diagnose

This test is primarily used to diagnose or confirm suspected genetic mutations associated with rare conditions affecting muscle or connective tissue, such as certain types of muscular dystrophy or connective tissue disorders.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

LAMA1 Mutation Test

Frequently asked questions

What does a positive result mean?
A positive result indicates the presence of specific genetic changes in the LAMA1 gene that may be linked to muscle or connective tissue disorders. This finding should be discussed with your healthcare provider to understand implications for your health and any potential next steps.
What if my test results are negative?
A negative result means no obvious genetic changes were detected in the LAMA1 gene tested in this sample. However, some genetic conditions may have multiple mutations or may not be detected by this specific test. Your healthcare provider will help interpret results in relation to your symptoms and medical history.
How often should I get this test?
This test is usually performed once, often as part of a diagnostic or genetic evaluation. Follow-up testing may be recommended based on your healthcare provider’s assessment of your symptoms, family history, or further genetic testing needs.
  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