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Full-Length Mutation Analysis of MRPS2 Gene in Whole Blood

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

This test checks for specific changes (mutations) in the MRPS2 gene, which may be linked to certain genetic conditions affecting muscle or other body functions.

Quick summary

["Helps diagnose or monitor genetic conditions related to MRPS2 mutations."]

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

Key facts at a glance

LOINC
77094-1
Short code
MRPS2 Full Mut Anl Bld/T Seq
Synonyms
MRPS2 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 MRPS2 gene provides instructions for making a protein called mitochondrial ribosomal protein S2. Mutations in this gene can lead to rare genetic disorders, including mitochondrial disorders that may cause muscle weakness, developmental delays, or other health issues. This test looks for full-length mutations in the MRPS2 gene using a sample of your blood.

Why It Might Be Ordered

Your healthcare provider may recommend this test if you or a family member have symptoms suggestive of a genetic disorder linked to MRPS2 mutations, such as unexplained muscle weakness, developmental delays, or other neurological or metabolic concerns. It may also be part of genetic testing for certain inherited conditions.

Sample Collection and Preparation

A blood sample will be collected from a vein in your arm. This sample is used to analyze the MRPS2 gene for mutations. The test does not require fasting or special preparation beyond standard blood draw procedures.

What to Expect After the Test

Results will be reviewed by a healthcare professional or genetic counselor. Depending on the findings, they may recommend further testing, additional evaluations, or genetic counseling to discuss implications for you and your family.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

MRPS2 Gene Mutation Test

Frequently asked questions

What does a positive result mean?
A positive result indicates the presence of a full-length mutation in the MRPS2 gene. This finding may confirm a diagnosis of a genetic disorder linked to MRPS2 mutations and will guide further medical management or testing.
What if the test is negative?
A negative result means no full-length mutations in the MRPS2 gene were detected in this sample. However, some mutations may not be detected by this test, so further genetic testing or evaluation may still be recommended.
How often should I get this test?
The frequency of this test depends on your clinical situation. Your healthcare provider will determine if repeat testing is needed based on ongoing symptoms, family history, or other medical reasons.
  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