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TMEM216 C218 Gly/Arg (Serum) Mutation Screening

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

This test checks for specific genetic changes in the TMEM216 gene, which may be linked to certain rare inherited conditions affecting blood clotting or kidney function.

Quick summary

["Genetic screening helps identify potential inherited risks for rare disorders."]

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

Key facts at a glance

LOINC
77751-6
Short code
TMEM216 c.218G>T Bld/T Ql
Synonyms
TMEM216 c.218G>T Bld/T Ql
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 test detects a particular genetic variation (a substitution of glycine for arginine at position 218 in the TMEM216 protein) that may be associated with inherited bleeding disorders or kidney-related conditions. This is done through a blood sample analysis to examine DNA for these changes.

Why It Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of bleeding disorders (such as hemophilia or von Willebrand disease), kidney issues, or if you are considering genetic counseling or carrier testing.

Sample Collection and Preparation

A blood sample is drawn from your arm into a tube. The sample is then processed to extract DNA for genetic analysis. No special preparation is needed, but fasting may not be required unless specified by your provider.

What to Expect After the Test

Results are typically available within 1–2 weeks. Your healthcare provider will discuss the findings with you, including any implications for your health or family planning.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

TMEM216 Gene Mutation Test

Frequently asked questions

This mutation may increase the risk of inherited bleeding disorders or kidney complications. If positive, further evaluation by a genetic counselor or specialist may be recommended to assess risks and potential management strategies.
This test is not a diagnostic tool for acute bleeding or kidney symptoms but helps identify genetic predispositions for certain inherited conditions.
How accurate is this test?
This test is highly sensitive and specific for detecting the specified genetic change. However, like all genetic tests, results should be interpreted by a healthcare provider in the context of your medical history and symptoms.
Can this test be done on urine or saliva instead of blood?
No, this test requires a blood sample for DNA extraction. Saliva or urine samples are not used for this specific genetic analysis.
  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