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CIZ1 Gene Cervical Dystonia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CIZ1 Gene Cervical Dystonia NGS Genetic Test

Short Name: CIZ1 Gene NGS

Also known as: CIZ1 Gene Mutation Analysis, Cervical Dystonia CIZ1 Sequencing, CIZ1 Dystonia Genetic Test

CIZ1 Gene Cervical Dystonia 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 The report is generally issued within 3 to 4 weeks after the laboratory receives the sample. Urgent results are not applicable for NGS gene testing.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify clinically relevant variants in the CIZ1 gene that may contribute to cervical dystonia. It helps clinicians distinguish possible genetic forms from other causes, informs recurrence risk, and may guide personalised management decisions.

Test Code
3952
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The report is generally issued within 3 to 4 weeks after the laboratory receives the sample. Urgent results are not applicable for NGS gene testing.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. Please provide clinical history and pedigree information. A genetic counselling session may be scheduled before sample collection.

Method: Peripheral blood draw or FTA card spot

Step 2

Laboratory Analysis

A small volume of blood will be collected by a trained phlebotomist, or the FTA card may be spotted if a self-sample kit is used.

Step 3

Report Delivery

There are no activity restrictions. The sample will be transported to the laboratory for DNA extraction and NGS analysis.

Timeline: The report is generally issued within 3 to 4 weeks after the laboratory receives the sample. Urgent results are not applicable for NGS gene testing.

Patient Instructions

1
Before the Test:No fasting is needed. A genetic counselling session before testing is advised to review the pedigree and discuss possible results.
2
During the Test:A blood sample is collected by venepuncture. If using an FTA card, one drop of blood is applied to the card and allowed to dry.
3
After the Test:The sample is transported to the laboratory. No recovery time is needed and the patient can return to normal activities immediately.

About This Test

Who Should Get This Test

The purpose of this test is to identify clinically relevant variants in the CIZ1 gene that may contribute to cervical dystonia. It helps clinicians distinguish possible genetic forms from other causes, informs recurrence risk, and may guide personalised management decisions.

How to Prepare

  • EDTA whole blood, extracted DNA, or one drop blood on FTA card may be submitted.
  • Label the sample tube or card with patient name and unique ID.
  • Maintain sample at ambient temperature during transport; avoid repeated freeze-thawing.
  • Complete the test request form with clinical history and pedigree chart.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Cervical dystonia is primarily a clinical diagnosis. A neurologist may order CIZ1 NGS testing when the family history is suggestive or the movement disorder is atypical. The genetic result should always be combined with a neurological examination and neuroimaging if needed."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for DNA extraction
ContainerEDTA Vacutainer / FTA Card
Collection MethodPeripheral blood draw or FTA card spot

Sample Stability

Whole blood (EDTA)
Extracted DNA
FTA card
Sample Rejection Criteria:
  • Clotted or visibly haemolysed blood sample
  • Incorrectly labelled or missing demographic information
  • Sample received without clinical history or genetic counselling request form
  • Sample exposed to severe temperature extremes

Understanding Your Results

The CIZ1 gene sequence will be compared to a reference sequence. Variants are classified according to internationally accepted guidelines. The report will state whether a pathogenic/likely pathogenic variant was found and includes an interpretive summary for the clinician.
📊

Negative

No clinically significant CIZ1 variant detected. Cervical dystonia may still be present; a genetic cause in another gene or a non-genetic cause cannot be excluded.

📊

Positive

Pathogenic or likely pathogenic CIZ1 variant detected. This supports a genetic contribution to cervical dystonia and should prompt neurologist evaluation and family counselling.

📊

Variant of Uncertain Significance

A DNA change was found but its clinical significance is unclear. Additional family testing and clinician correlation may be needed.

⚠️ When to Consult a Doctor:

Consult a neurologist if you have progressive neck muscle spasms, abnormal head posture, or disabling neck pain. Contact your doctor for a detailed review if the NGS report identifies a pathogenic/likely pathogenic CIZ1 variant.

Limitations

  • ⚠This test evaluates only the CIZ1 gene; other genes implicated in dystonia are not evaluated.
  • ⚠A negative result does not exclude a genetic or non-genetic cause of cervical dystonia.
  • ⚠Variants in regulatory or untranslated regions may not be reliably detected depending on assay design.
  • ⚠Classification of variants may be revised as new scientific evidence emerges.

Risks & Considerations

  • ●Minimal risk of bleeding, bruising or infection at the venepuncture site
  • ●Possible anxiety related to a genetic result
  • ●Genetic result may have implications for family members

Interfering Factors

  • ●Hematopoietic chimerism or recent allogeneic bone marrow transplant may alter genetic testing results.
  • ●Poor quality or degraded DNA may reduce NGS read coverage.
  • ●A variant of uncertain significance may not provide a clear clinical interpretation.
  • ●Rare deep intronic variants or large structural rearrangements may not be detected by standard NGS.

Compare With Similar Tests

TestCIZ1 Gene Cervical Dystonia NGS Genetic TestCIZ1 Gene NGS TestDystonia Targeted Gene Panel
ComparisonCIZ1 Gene Cervical Dystonia NGS Genetic Test

Frequently Asked Questions

What is the CIZ1 gene test?
It is an NGS genetic test that reads the coding regions of the CIZ1 gene to identify variants associated with cervical dystonia. The cost is Rs 20000.
What is cervical dystonia?
Cervical dystonia is a neurological disorder that causes involuntary neck muscle contractions, abnormal head movements and postures. It is rare, affecting about 1 in 10,000 people.
Is fasting required before the test?
No, fasting is not required for the CIZ1 gene NGS genetic test.
What sample type is needed?
The sample type can be blood, extracted DNA, or one drop of blood on an FTA card.
How long do results take?
Results are usually available within 3 to 4 weeks after the sample is received by the laboratory.
Why is genetic counselling recommended?
Genetic counselling is recommended to draw a pedigree chart, explain the possible outcomes, discuss family implications, and obtain informed consent before testing.
Does a negative result rule out cervical dystonia?
No. A negative result means no clinically significant CIZ1 variant was detected, but cervical dystonia may still be caused by another gene or a non-genetic factor.
What does a positive result mean?
A positive result means a pathogenic or likely pathogenic variant was found in the CIZ1 gene. This supports a genetic contribution and should be interpreted by a neurologist.
Is the test covered by insurance?
The test is generally not covered by insurance and payment is required upfront. You may check with your insurer for genetic testing policy details.
Can this test help with diagnosis?
Yes, it can provide additional genetic information to support a clinical diagnosis of cervical dystonia when used alongside neurological examination and after excluding secondary causes.
Can cervical dystonia be diagnosed by a CIZ1 mutation alone?
No. Cervical dystonia is a clinical diagnosis. A CIZ1 gene variant alone is not sufficient; the result must be correlated with the patient's symptoms and examination findings.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in many cities across India, including Mumbai, Delhi, Bangalore, Hyderabad and other major cities.
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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✓ 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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