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Genetic test for SHOX gene mutation (whole blood)

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

This test checks for mutations in the SHOX gene, which may be linked to skeletal growth disorders like short stature or limb-length discrepancies.

Quick summary

["Assesses genetic variations that could affect bone and limb development."]

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

Key facts at a glance

LOINC
34500-9
Short code
SHOX gene Mut Anl Bld/T
Synonyms
SHOX 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

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you or your child have symptoms like disproportionate short stature, skeletal abnormalities, or a family history of genetic conditions affecting growth.

How the Test Works

Blood is drawn to collect DNA from your cells. The lab analyzes the SHOX gene for specific mutations that could influence bone growth and development.

What to Expect Before the Test

No special preparation is needed. You may eat and drink normally before the blood draw, but inform your provider if you’re on blood-thinning medication.

What to Expect During the Test

A healthcare professional will insert a needle into a vein in your arm. You may feel a slight pinch, but the process usually takes a few minutes. You can sit or lie down while it happens.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

SHOX Gene Mutation Test

Frequently asked questions

SHOX gene mutations are associated with conditions like Short Limb Dysplasia (SLD) or Grebe syndrome, which can cause abnormal bone growth and skeletal deformities. Early genetic testing can help guide treatment and management plans.
This test helps identify if a genetic mutation exists that may require specialized medical care, such as physical therapy or monitoring for growth patterns.
How long will results take?
Results are typically available within 1 to 2 weeks, depending on lab processing times and confirmation needs.
What does a positive result mean?
A positive result indicates the presence of a SHOX gene mutation, which may explain your or your child’s growth or skeletal concerns. Your healthcare provider will discuss next steps, such as genetic counseling or further 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