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L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction NGS Genetic Test

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L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction NGS Genetic Test

Short Name: L1CAM NGS Genetic Test

Also known as: X-linked hydrocephalus, L1CAM-associated syndrome

L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction 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 from the date the sample is received at the laboratory. A provisional report may be issued earlier if needed.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the L1CAM gene NGS genetic test is to identify pathogenic variants in the L1CAM gene that are associated with hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction. Genetic testing confirms the clinical diagnosis, aids in carrier detection, facilitates prenatal diagnosis, and provides essential information for genetic counseling and family planning. NGS technology ensures comprehensive coverage of coding exons and splice sites, allowing detection of point mutations and small insertions/deletions that may be missed by other methods.

Test Code
4136
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 from the date the sample is received at the laboratory. A provisional report may be issued earlier if needed.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation is required. A genetic counseling session is recommended to draw a pedigree chart of family members affected with the disorder.

Method: Blood draw or FTA card spot

Step 2

Laboratory Analysis

A small blood sample (or alternative sample as indicated) is collected by a qualified phlebotomist. For FTA card collection, a few drops of blood are placed on the card.

Step 3

Report Delivery

No special precautions are necessary after sample collection. The patient can resume normal activities immediately.

Timeline: Reports are delivered within 3 to 4 weeks from the date the sample is received at the laboratory. A provisional report may be issued earlier if needed.

Patient Instructions

1
Before the Test:A pre-test genetic counseling session is mandatory to discuss inheritance, recurrence risks, and implications of results. The counselor will create a pedigree chart to understand the family history.
2
During the Test:The test involves no pain or risk. Sample collection is quick. After collection, the sample is transported to the laboratory for DNA extraction and NGS analysis.
3
After the Test:Post-test genetic counseling is recommended to explain results, management options, and reproductive choices. The referring physician will guide next steps.

About This Test

Who Should Get This Test

The purpose of the L1CAM gene NGS genetic test is to identify pathogenic variants in the L1CAM gene that are associated with hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstruction. Genetic testing confirms the clinical diagnosis, aids in carrier detection, facilitates prenatal diagnosis, and provides essential information for genetic counseling and family planning. NGS technology ensures comprehensive coverage of coding exons and splice sites, allowing detection of point mutations and small insertions/deletions that may be missed by other methods.

How to Prepare

  • Blood sample should be collected in an EDTA vacutainer to prevent clotting.
  • If using FTA card, spot blood within the designated circles and allow to dry thoroughly.
  • Extracted DNA can be shipped in a sterile Eppendorf tube with proper labeling.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Identifying a pathological L1CAM variant enables precise genetic counseling and informed reproductive decisions for families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA vacutainer / FTA card
Collection MethodBlood draw or FTA card spot

Sample Stability

Blood sample: Stable for up to 72 hours at 2-8°C.
FTA card: Stable for years at room temperature when stored dry.
Extracted DNA: Stable for months at -20°C.
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrect or missing patient identification
  • Sample received in wrong container or leaked
  • Insufficient sample quantity

Understanding Your Results

The L1CAM gene NGS test analyzes the coding exons and flanking splice sites for sequence variations. Variants are classified according to standard guidelines as pathogenic, likely pathogenic, variant of uncertain significance (VUS), likely benign, or benign. Clinically significant variants are reported with their potential impact on protein structure and function.
Pathogenic variant detected: Confirms the diagnosis of L1CAM-associated disorder. Genetic counseling and family testing are recommended.
Likely pathogenic variant detected: Highly suggestive of disease, but additional evidence may be required.
Variant of uncertain significance (VUS) detected: More data needed to determine its clinical significance. Familial studies may help reclassify.
No pathogenic variant detected: Does not exclude all genetic causes; other genes and non-genic variants may be responsible.
⚠️ When to Consult a Doctor:

Consult a neurologist or gastroenterologist if symptoms such as persistent headache, vomiting, abdominal distension, constipation, or poor growth are present. A genetic counselor should also be consulted to understand the implications of test results and reproductive options.

Limitations

  • ⚠NGS may not detect large gene deletions, duplications, or rearrangements involving the L1CAM gene; additional MLPA or array CGH is recommended for full coverage.
  • ⚠This test cannot rule out mutations in other genes associated with hydrocephalus or intestinal pseudoobstruction.
  • ⚠Results should be interpreted in the context of clinical findings and family history.

Risks & Considerations

  • ●Minimal risk of bruising or discomfort at the blood draw site.
  • ●No significant risk associated with FTA card collection.
  • ●Genetic testing can sometimes reveal unexpected findings or family implications, which are addressed through professional counseling.

Interfering Factors

  • ●Maternal cell contamination in prenatal samples
  • ●Uninformative test due to incomplete coverage at GC-rich regions
  • ●Presence of pseudogenes or homologs
  • ●Clinical interpretation of variants of uncertain significance

Compare With Similar Tests

TestL1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction NGS Genetic TestL1CAM Single Gene SequencingHydrocephalus NGS Panel
ComparisonL1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction NGS Genetic Test

Frequently Asked Questions

What is the L1CAM gene?
The L1CAM gene provides instructions for making the L1 cell adhesion molecule, a protein essential for neural cell migration, axon growth, and intestinal nervous system development. Mutations in this gene cause X-linked hydrocephalus and associated disorders.
What are the symptoms of L1CAM-related hydrocephalus?
Symptoms include headaches, nausea, vomiting, visual disturbances, seizures, poor coordination, and difficulty walking. In severe cases, it can cause intellectual disability and spasticity.
What is congenital intestinal pseudoobstruction?
It is a rare condition where the intestine cannot contract normally to push food forward, leading to symptoms like abdominal pain, distension, vomiting, constipation or diarrhea, poor growth, and malnutrition.
Why is genetic testing important for L1CAM disorders?
Genetic testing confirms the clinical diagnosis, identifies the specific pathogenic variant, enables carrier detection in at-risk relatives, and allows prenatal diagnosis for future pregnancies. It is essential for genetic counseling and reproductive planning.
What is the cost of the L1CAM NGS genetic test at DNA Labs India?
The test costs INR 20,000, which includes NGS analysis, home sample collection, and a comprehensive clinical report. Raw data files such as FASTQ and VCF are also provided.
What type of sample is required?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card. The sample can be collected at home by our phlebotomist.
How long does it take to get results?
The turnaround time is 3 to 4 weeks from the date the sample is received at the laboratory.
Does the test detect all mutations in the L1CAM gene?
NGS analyzes the entire coding region and splice junctions, detecting point mutations and small insertions/deletions. However, large deletions or duplications may not be detected; additional testing such as MLPA is available if required.
Who should take this test?
Individuals with symptoms suggestive of L1CAM syndrome, families with a history of X-linked hydrocephalus, at-risk carrier females, and couples planning prenatal genetic testing.
Can this test be done during pregnancy?
Yes, prenatal testing can be performed on fetal DNA obtained from amniocentesis or chorionic villus sampling, but it requires prior genetic counseling and is usually done when there is a known familial mutation.
What does a positive result mean?
A positive result (presence of a pathogenic variant in L1CAM) confirms the genetic diagnosis and provides information for management, prognosis, and recurrence risk counseling.
Is prior genetic counseling required before taking this test?
Yes, a genetic counseling session is included to diagram the pedigree, discuss inheritance patterns, and explain all potential outcomes and implications of the test.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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