NALCN Gene Neuroaxonal neurodegeneration, infantile, with facial dysmophism NGS Genetic Test
Short Name: NALCN NGS Test
Also known as: NALCN Gene Sequencing, Infantile Neuroaxonal Degeneration Genetic Test, NALCN Mutation Analysis
NALCN Gene Neuroaxonal neurodegeneration, infantile, with facial dysmophism NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered within 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to detect mutations in the NALCN gene that cause infantile neuroaxonal neurodegeneration with facial dysmorphism. It aids in confirming a clinical diagnosis, differentiating from other neurodegenerative disorders, and providing information for genetic counseling and recurrence risk assessment.
- Test Code
- 5860
- CPT Code
- 81407
- ICD Code
- G31.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended to discuss the test implications and draw a pedigree chart.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by venipuncture or fingerstick onto FTA card. Ensure proper labeling.
Report Delivery
No restrictions. The sample is transported to the lab at ambient temperature.
Timeline: Reports are delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect mutations in the NALCN gene that cause infantile neuroaxonal neurodegeneration with facial dysmorphism. It aids in confirming a clinical diagnosis, differentiating from other neurodegenerative disorders, and providing information for genetic counseling and recurrence risk assessment.
How to Prepare
- For blood: collect in EDTA vacutainer, mix gently.
- For FTA card: apply one drop of blood, let dry completely.
- Label sample with patient name, ID, and date.
- Ship at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation in infants with neuroaxonal degeneration and facial dysmorphism is crucial for management and family counseling. NGS provides comprehensive analysis of the NALCN gene."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper storage
Understanding Your Results
Positive (Pathogenic variant)
Confirms diagnosis of NALCN-related neuroaxonal neurodegeneration. Genetic counseling recommended.
Negative (No variant)
No mutation detected in NALCN gene. Clinical diagnosis may need re-evaluation or other gene testing.
Variant of Uncertain Significance (VUS)
A variant was found but its significance is unknown. Further family studies may be needed.
If your child shows symptoms such as developmental delay, facial dysmorphism, hypotonia, seizures, or breathing difficulties, consult a pediatric neurologist or geneticist for evaluation and testing.
Limitations
- ⚠This test detects mutations in the NALCN gene only; other genes may cause similar phenotypes.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Test does not assess non-coding regulatory regions comprehensively.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●No significant risks associated with the test itself
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Recent blood transfusion (may dilute DNA)
- ●Bone marrow transplant (chimerism)
Compare With Similar Tests
| Test | NALCN Gene Neuroaxonal neurodegeneration, infantile, with facial dysmophism NGS Genetic Test | Whole Exome Sequencing | Targeted NGS Panel for Neurodegenerative Disorders | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | NALCN Gene Neuroaxonal neurodegeneration, infantile, with facial dysmophism NGS Genetic Test | WES analyzes all coding regions of genes, while this test focuses only on NALCN gene. WES is more comprehensive but costlier. | This panel includes multiple genes associated with neurodegeneration, whereas this test is single-gene. Panel may be preferred if clinical picture is unclear. | Sanger is used for confirmation of specific variants, but NGS is more efficient for initial screening. |
Frequently Asked Questions
What is the cost of the NALCN gene NGS test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
What does a positive result mean?
Can this test be done on newborns?
Is genetic counseling included?
Are there any risks associated with the test?
Can this test detect all types of NALCN mutations?
What is the difference between NGS and Sanger sequencing?
Is home sample collection available?
What should I do if the result is negative?
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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