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Full-length genomic sequencing of the NIPA1 gene (encoding Neurexin-4)

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

This test checks for specific changes (mutations) in the NIPA1 gene, which may be linked to rare neurological conditions.

Quick summary

["Genetic screening for potential inherited neurological disorders."]

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

Key facts at a glance

LOINC
81884-9
Short code
NIPA1+REEP1 Full Mut Anl Bld/T Seq
Synonyms
NIPA1+REEP1 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 NIPA1 gene mutation test analyzes the DNA sequence of the NIPA1 gene to identify any inherited or de novo mutations. These mutations can affect how your brain and nervous system develop or function, potentially contributing to conditions like developmental delay, intellectual disability, or autism spectrum disorder.

Why It Might Be Ordered

Your healthcare provider may recommend this test if you or your child have symptoms such as developmental delays, behavioral challenges, or neurological issues. It’s also used in genetic counseling for families with a history of similar conditions.

Sample Collection and Process

A blood sample (whole blood) is typically collected to extract DNA for sequencing. The lab processes the sample to identify mutations in the NIPA1 gene using advanced sequencing technology.

What to Expect Before the Test

No special preparation is needed, but you may be asked to fast or avoid certain medications for a short time if instructed by your provider. Bring a list of current medications to your appointment.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Mutations in the NIPA1 gene are associated with rare genetic disorders affecting brain development. While many mutations don’t cause symptoms, some may increase the risk of developmental delays, epilepsy, or other neurological features. Genetic counseling can help interpret results and guide next steps.

Short name

NIPA1 Gene Mutation Panel

Frequently asked questions

Will this test show all possible genetic issues?
No, this test only checks for mutations in the NIPA1 gene. Other genes or conditions may require additional testing.
What does a positive result mean?
A positive result means you or your child have a known mutation in the NIPA1 gene. This may explain some symptoms or guide further evaluation, but it doesn’t always predict the exact impact on health.
Can this test be done if I’m pregnant?
This test is typically performed on blood samples from adults or children. Pregnant individuals may need a different genetic testing approach, such as prenatal testing or carrier screening, depending on their situation.
  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