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NSDHL Gene CK Syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

NSDHL Gene CK Syndrome NGS Genetic Test

Short Name: CK Syndrome NGS Test

Also known as: CK Syndrome Genetic Test, NSDHL Gene NGS Test

NSDHL Gene CK 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

To identify pathogenic mutations in the NSDHL gene that are associated with CK Syndrome, enabling early and accurate diagnosis, supporting genetic counselling, and helping guide management and treatment decisions for affected individuals.

Test Code
3957
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

A genetic counselling session is required before testing to draw a pedigree chart. Please share the clinical history of the patient and any family members affected with CK Syndrome.

Method: Blood draw / Dried blood spot / DNA submission

Step 2

Laboratory Analysis

A small blood sample is collected by a trained phlebotomist. Alternatively, a few drops of blood can be collected on an FTA card, or extracted DNA may be provided for analysis.

Step 3

Report Delivery

No special restrictions are needed. The sample is transported to the laboratory at ambient temperature. Reports will be available in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:A genetic counselling session is recommended before testing to review clinical history and draw a pedigree chart.
2
During the Test:The sample is collected as whole blood in an EDTA tube, as extracted DNA, or as a dried blood spot on an FTA card. The procedure is quick and simple.
3
After the Test:No special care is needed after sample collection. You will receive your NGS report in 3 to 4 weeks.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the NSDHL gene that are associated with CK Syndrome, enabling early and accurate diagnosis, supporting genetic counselling, and helping guide management and treatment decisions for affected individuals.

How to Prepare

  • Blood should be collected in an EDTA tube.
  • One drop of blood may be collected on an FTA card.
  • Extracted DNA can be submitted in a clearly labelled DNA vial.
  • All samples must be labelled with patient name and unique ID.

Doctor's Notes

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

"Genetic confirmation of CK Syndrome is essential for patient management. A physician should refer suitable patients for NGS after clinical evaluation and should interpret the report alongside a clinical geneticist."

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 / DNA vial
Collection MethodBlood draw / Dried blood spot / DNA submission

Sample Stability

Samples are stable at ambient room temperature during transport.
Do not freeze whole blood before DNA extraction.
Dried blood spots on FTA cards are stable at room temperature.
Sample Rejection Criteria:
  • Clotted or hemolysed blood sample
  • Inappropriate sample container
  • Insufficient sample quantity
  • Missing label or incorrect patient details

Understanding Your Results

Results are interpreted by a clinical geneticist. The report should be used in conjunction with the patient's clinical history and family pedigree.
No pathogenic variant detected: Negative result, no NSDHL mutation identified.
Pathogenic or likely pathogenic variant detected: Positive result, confirms a genetic diagnosis of CK Syndrome.
Variant of uncertain significance: Additional familial testing may be required to clarify clinical significance.
⚠️ When to Consult a Doctor:

If the patient has features such as intellectual disability, seizures, muscle stiffness, developmental delay, low muscle tone, or dysmorphic features, a doctor should be consulted before and after genetic testing.

Limitations

  • ⚠This NGS test is designed to detect sequence mutations in the NSDHL gene.
  • ⚠Large deletions, duplications, or rearrangements may not be detected unless additional analysis is performed.
  • ⚠A variant of uncertain significance may require further testing of family members.
  • ⚠Results should be interpreted along with clinical findings and family history.

Risks & Considerations

  • ●Minimal bleeding or bruising at the venipuncture site
  • ●Rare possibility of fainting during blood collection

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample contamination
  • ●Mosaicism
  • ●Very rare complex variants in the NSDHL gene

Frequently Asked Questions

What is the NSDHL Gene CK Syndrome NGS Genetic Test?
It is a targeted Next-Generation Sequencing test that analyses the NSDHL gene for mutations associated with CK Syndrome. It is used to confirm or exclude a genetic diagnosis of CK Syndrome.
How much does this test cost at DNA Labs India?
The special discounted cost is INR 20,000. Free home sample collection is included for online bookings across major Indian cities.
What is CK Syndrome?
CK Syndrome is a rare genetic disorder caused by mutations in the NSDHL gene. It can affect the brain, muscles and other body systems, leading to symptoms such as intellectual disability, seizures, muscle stiffness and delayed development.
Why is NGS technology used for this test?
NGS is a highly accurate method that can sequence multiple regions of the NSDHL gene in a single run. It detects mutations that may be missed by traditional targeted testing and provides comprehensive genetic information.
What types of samples are accepted?
The test accepts whole blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
Fasting is not required for this genetic test. You should follow the pre-test instructions provided by the genetic counsellor.
How long will it take to get the report?
Reports are generally delivered in 3 to 4 weeks after the sample reaches the laboratory.
Does DNA Labs India provide raw data files?
Yes, DNA Labs India is transparent and shares raw data files, including FASTQ and VCF files, along with the clinical report for this test.
Can this test help with early diagnosis?
Yes, early genetic diagnosis helps families access appropriate clinical care, genetic counselling and targeted management of symptoms associated with CK Syndrome.
Who should consider this test?
Individuals with intellectual disability, seizures, muscle stiffness, low muscle tone, developmental delays, abnormal facial features, or a family history of NSDHL-related disorders should consider this test after clinical evaluation.
How should I prepare for the test?
A pre-test genetic counselling session is required to document clinical history and draw a pedigree chart of family members affected with CK Syndrome. The sample collection then takes only a few minutes.
How can I book this test?
You can book online through the DNA Labs India website or contact the lab directly. Online bookings include free home sample collection at the discounted price of INR 20,000.
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

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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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