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Next-Generation Sequencing (NGS) Panel for Pathogenic Variant Detection in Plasma DNA

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

This test analyzes genetic mutations in your blood using advanced sequencing technology to identify specific changes in DNA that may be linked to certain health conditions or inherited traits.

Quick summary

["This test helps detect rare genetic variations that could influence your health risk or diagnosis."]

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

Key facts at a glance

LOINC
76031-4
Short code
NPC1 gene Full Mut Anl Bld/T Seq
Synonyms
NPC1 gene 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 test examines a comprehensive set of genes known to be associated with hereditary conditions, cancer predispositions, or other genetic disorders. It looks for full mutations (deletions, duplications, or point changes) in DNA extracted from your blood plasma.

How the Test Works

Your blood sample is processed to isolate DNA fragments. These fragments are then sequenced using high-throughput technology to identify any genetic variants of interest, compared against a reference genome for detection.

Why It Might Be Ordered

A healthcare provider may recommend this test if you have a family history of genetic disorders, symptoms suggestive of a genetic condition, or if you are at higher risk due to certain medical history or lifestyle factors.

Sample Collection and Preparation

A blood sample is drawn from your vein, similar to a routine blood test. The plasma portion is separated and prepared for genetic analysis. This process is typically done in a laboratory setting.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

NGS Gene Mutation Screen

Frequently asked questions

What does this test involve beyond just genetic mutations?
This test specifically focuses on detecting full mutations in predefined genes. Additional genetic testing may be needed for broader or more detailed analysis depending on clinical needs.
How long will it take to get results?
Results from this type of sequencing test can take several weeks to months, depending on the complexity of the genes analyzed and the volume of testing performed.
Can this test be used to diagnose cancer?
While this test can identify genetic mutations linked to cancer risk, it is not a definitive cancer diagnosis. Further evaluation by a healthcare provider, including clinical correlation and possibly additional tests, is required for diagnosis.
  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