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CDKL5 Gene Angelman-Like Syndrome NGS Genetic Test

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CDKL5 Gene Angelman-Like Syndrome NGS Genetic Test

Short Name: CDKL5 Angelman-Like Syndrome Test

Also known as: Angelman-Like Syndrome, CDKL5 Deficiency Disorder

CDKL5 Gene Angelman-Like 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.

Next-Generation Sequencing (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

To identify mutations in the CDKL5 gene for the diagnosis of CDKL5-related Angelman-like syndrome, aiding in clinical management and genetic counseling.

Test Code
1510
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

Patient must provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via standard venipuncture procedure.

Step 3

Report Delivery

Sample is processed and analyzed in the laboratory.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are mandatory before the test.
2
During the Test:The test involves a blood draw; no invasive procedures beyond standard venipuncture.
3
After the Test:Results are interpreted by a geneticist and reported. Genetic counseling is advised post-test.

About This Test

Who Should Get This Test

To identify mutations in the CDKL5 gene for the diagnosis of CDKL5-related Angelman-like syndrome, aiding in clinical management and genetic counseling.

How to Prepare

  • No fasting required
  • Bring prescription and valid ID
  • Ensure proper identification of sample

Doctor's Notes

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

"Early genetic testing for CDKL5 mutations can guide treatment and support for patients with Angelman-like symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect sample labeling

Understanding Your Results

The test results provide information on whether a mutation is present in the CDKL5 gene.
📊

Confirms diagnosis of CDKL5-related disorder. Correlation with clinical symptoms is necessary.

Action: Consult with a neurologist or geneticist for further management and family counseling.

📊

CDKL5 mutation not identified. Consider other genetic tests or differential diagnoses.

Action: Follow up with healthcare provider for alternative diagnostic approaches.

⚠️ When to Consult a Doctor:

If you or your child experience symptoms such as seizures, developmental delays, or intellectual disability, consult a healthcare professional for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all mutation types (e.g., large deletions)
  • ⚠Requires correlation with clinical symptoms
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Suboptimal sample quality
  • ●Contamination during DNA extraction
  • ●Technical errors in sequencing

Frequently Asked Questions

What is CDKL5 Gene Angelman-Like Syndrome?
It is a rare genetic disorder caused by mutations in the CDKL5 gene, leading to symptoms similar to Angelman syndrome, such as seizures and developmental delays.
What are the common symptoms of CDKL5 mutation?
Symptoms include seizures, developmental delays, intellectual disability, movement disorders, and speech problems.
How is CDKL5 mutation diagnosed?
Diagnosis is primarily through genetic testing, specifically next-generation sequencing (NGS) of the CDKL5 gene.
What is the cost of the CDKL5 Gene Angelman-Like Syndrome NGS Genetic Test?
The test costs INR 20,000 in India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks.
What does the test report include?
The report includes the mutation status of the CDKL5 gene, interpretation, and recommendations for further steps.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort but is generally not painful.
Can the test be done at any age?
Yes, the test can be performed at any age, from infants to adults.
What if the test result is positive?
A positive result confirms CDKL5 mutation, and you should consult a neurologist or geneticist for management and counseling.
What if the test result is negative?
A negative result means no mutation was detected in the CDKL5 gene; other genetic tests may be recommended.
How accurate is the NGS genetic test for CDKL5 mutation?
NGS technology is highly accurate for detecting mutations, but genetic counseling is advised for proper 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.

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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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