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Genetic Analysis: Full Sequence of MRPL18 Gene (Whole Blood)

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

This test checks for mutations in the MRPL18 gene, which may be linked to certain genetic conditions affecting mitochondrial function.

Quick summary

["This test helps identify potential genetic causes for rare inherited disorders."]

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

Key facts at a glance

LOINC
77100-6
Short code
MRPL18A Full Mut Anl Bld/T Seq
Synonyms
MRPL18A Full Mut Anl Bld/T Seq
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
sequencing
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 MRPL18 gene is part of the mitochondrial DNA, which plays a role in energy production in cells. This test examines the full sequence of this gene to detect any inherited mutations that could affect how your body functions.

Why It Might Be Ordered

Your healthcare provider may recommend this test if you or a family member have symptoms like muscle weakness, developmental delays, or neurological issues that might be linked to mitochondrial disorders.

Sample Collection and Preparation

A small amount of your blood will be drawn into a tube. The blood sample will be sent to a lab for genetic sequencing to analyze the MRPL18 gene.

Results and Interpretation

Results will show whether any mutations in the MRPL18 gene are present. If mutations are found, they may help guide treatment options or genetic counseling.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

MRPL18 Gene Mutation Test

Frequently asked questions

What could this test tell me about my health?
If mutations are identified, they may indicate a genetic predisposition to mitochondrial disorders, which can impact energy production in cells and may lead to symptoms like fatigue, muscle weakness, or developmental delays. Consult your healthcare provider for personalized interpretation.
How will I know if my results are abnormal?
Abnormal results are typically identified if mutations in the MRPL18 gene are detected. These mutations may or may not cause symptoms, and interpretation depends on family history and clinical context. Your doctor will discuss findings with you.
Will this test affect my treatment?
Yes, if mutations are found, they may influence treatment planning or guide recommendations for genetic counseling. Your healthcare provider will discuss how these results might impact your care plan.
  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