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SNAP29 Gene Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome NGS Genetic Test

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SNAP29 Gene Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome NGS Genetic Test

Short Name: SNAP29 CEDNIK Syndrome NGS Test

Also known as: CEDNIK Syndrome, SNAP29-related disorder

SNAP29 Gene Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome 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 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 this test is to identify mutations in the SNAP29 gene that cause CEDNIK syndrome, enabling accurate diagnosis, personalized treatment planning, and genetic counseling for patients and their families.

Test Code
5706
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Inform the lab of any medications or supplements.

Method: Venipuncture or finger-prick for FTA card

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or a finger-prick for FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No specific preparation. Genetic counseling recommended before testing.
2
During the Test:Sample collection and analysis in the lab using NGS technology.
3
After the Test:Receive report and consult with a genetic counselor for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the SNAP29 gene that cause CEDNIK syndrome, enabling accurate diagnosis, personalized treatment planning, and genetic counseling for patients and their families.

How to Prepare

  • Ensure sample is collected in a sterile environment
  • Label the sample correctly with patient details
  • Transport sample at ambient temperature

Doctor's Notes

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

"This NGS test is essential for confirming CEDNIK syndrome, guiding management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick for FTA card

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Sample hemolysis
  • Insufficient sample volume
  • Incorrect sample type

Understanding Your Results

Results indicate the presence or absence of mutations in the SNAP29 gene. A positive result confirms CEDNIK syndrome, while a negative result may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of CEDNIK syndrome

📊

No pathogenic variant detected

CEDNIK syndrome unlikely, but clinical correlation needed

📊

Variant of uncertain significance

Further testing or family studies recommended

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if symptoms persist or if there is a family history of genetic disorders.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may include variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Hemolyzed blood sample
  • ●Incorrect sample storage

Compare With Similar Tests

TestSNAP29 Gene Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome NGS Genetic TestWhole Exome SequencingTargeted Gene Panel
ComparisonSNAP29 Gene Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome NGS Genetic TestMore comprehensive but higher costFocused on specific genes, may miss others

Frequently Asked Questions

What is SNAP29 Gene CEDNIK Syndrome NGS Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the SNAP29 gene for mutations causing CEDNIK syndrome, a rare disorder with neurological and skin symptoms.
What are the symptoms of CEDNIK syndrome?
Symptoms include cognitive impairment, developmental delays, ichthyosis (scaly skin), palmoplantar keratoderma (thick skin on palms and soles), peripheral neuropathy, and seizures.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to detect mutations in the SNAP29 gene.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test covered by insurance?
No, this test is not covered by insurance and must be paid out-of-pocket.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Can the test be done for children?
Yes, the test is applicable for all ages, including pediatric patients.
What if the test result is positive?
A positive result confirms CEDNIK syndrome, and you should consult a geneticist for management and counseling.
What if the test result is negative?
A negative result makes CEDNIK syndrome unlikely, but further clinical evaluation may be needed if symptoms persist.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting gene mutations, but it may not identify all types of genetic variations. Genetic counseling is recommended for interpretation.
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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For Hospitals & Clinics

Reference Laboratory Services

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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ 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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