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ADCY5 Gene Dyskinesia, familial, with facial myokymia NGS Genetic Test

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ADCY5 Gene Dyskinesia, familial, with facial myokymia NGS Genetic Test

Short Name: ADCY5 NGS Test

Also known as: ADCY5-related dyskinesia, Familial dyskinesia with facial myokymia, ADCY5-associated movement disorder, Dyskinesia, familial, with facial myokymia

ADCY5 Gene Dyskinesia, familial, with facial myokymia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in Reports are typically available 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestChildren and Adults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to detect disease-causing variants in the ADCY5 gene in individuals who have features suggestive of familial dyskinesia with facial myokymia. Genetic confirmation can support diagnosis, guide treatment decisions, and inform recurrence risks for the family.

Test Code
4016
Price
₹20,000
Sample Type
Blood
Result Time
Reports are typically available 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A genetic counselling session will be conducted to draw a pedigree chart of family members affected with ADCY5 gene dyskinesia. Please provide the clinical history of the patient and details of affected relatives.

Method: Peripheral Venipuncture

Step 2

Laboratory Analysis

A small blood sample will be drawn from a vein in the arm. The procedure is quick and performed by an experienced phlebotomist.

Step 3

Report Delivery

You can leave immediately after sample collection. Reports will be delivered through the online portal, email, or WhatsApp in 3 to 4 weeks.

Timeline: Reports are typically available 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Genetic counselling and clinical history are recommended before the ADCY5 NGS genetic test. A pedigree chart of family members affected with familial dyskinesia with facial myokymia will be drawn during counselling.
2
During the Test:A blood sample is collected by peripheral venipuncture in an EDTA vacuum tube. The sample is sent to the genetics laboratory for DNA extraction and next-generation sequencing.
3
After the Test:No special aftercare is required. The blood draw site may be covered with cotton or a small plaster for a few minutes. The report will be available in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect disease-causing variants in the ADCY5 gene in individuals who have features suggestive of familial dyskinesia with facial myokymia. Genetic confirmation can support diagnosis, guide treatment decisions, and inform recurrence risks for the family.

How to Prepare

  • No special dietary restrictions are needed.
  • Carry a valid doctor's prescription or referral if available.
  • Inform the laboratory about any prior genetic testing, blood transfusion, or stem cell transplant.
  • The genetic counselling session should be completed before sample collection.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"ADCY5-related dyskinesia is a complex hyperkinetic movement disorder; genetic confirmation should always be combined with detailed clinical assessment and family history."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
ContainerEDTA Vacutainer
Collection MethodPeripheral Venipuncture

Sample Stability

Whole blood in EDTA is generally stable for up to 24 hours at room temperature.
Do not freeze whole blood.
Avoid exposure to extreme heat or direct sunlight during transport.
Sample Rejection Criteria:
  • Clotted sample
  • Hemolysed sample
  • Insufficient sample volume
  • Incorrectly labelled or unlabelled sample
  • Sample received in an improper container

Understanding Your Results

Interpretation of this NGS test is performed by clinical geneticists using international variant classification guidelines. Results should be correlated with clinical features and family history.
📊

Molecular diagnosis of ADCY5-related dyskinesia is confirmed.

Result type: Pathogenic variant detected

📊

High likelihood of diagnosis; additional family studies may be recommended.

Result type: Likely pathogenic variant detected

📊

Inconclusive result; further testing and family segregation analysis may be needed.

Result type: Variant of uncertain significance (VUS)

📊

A negative result does not exclude the clinical diagnosis; other genetic causes should be considered.

Result type: No pathogenic variant detected

⚠️ When to Consult a Doctor:

If the result shows a pathogenic or likely pathogenic variant, or if a variant of uncertain significance is identified, consult a neurologist and a clinical geneticist for personalised risk assessment and management.

Limitations

  • ⚠This single-gene test detects variants only in the ADCY5 gene and not in other genes associated with dyskinesia
  • ⚠NGS may not detect large deletions, duplications, deep intronic variants, or trinucleotide repeat expansions with high sensitivity
  • ⚠A variant of uncertain significance may require additional segregation or functional studies
  • ⚠A negative genetic test does not exclude the clinical diagnosis of ADCY5-related dyskinesia

Risks & Considerations

  • ●Minimal risk of slight pain, bruising, or bleeding at the needle site
  • ●Lightheadedness or feeling faint during blood collection
  • ●Rare risk of infection at the venipuncture site

Interfering Factors

  • ●Recent allogeneic stem cell transplant can alter DNA analysis results
  • ●Recent blood transfusion may affect DNA testing in some cases
  • ●Poor DNA quality or quantity can reduce test sensitivity
  • ●Sample contamination or mislabelling can invalidate results

Frequently Asked Questions

What is the cost of the ADCY5 gene dyskinesia NGS genetic test at DNA Labs India?
The cost is Rs 20000. Home sample collection is available at no extra charge.
What does the ADCY5 NGS genetic test detect?
It detects pathogenic or likely pathogenic variants in the ADCY5 gene associated with familial dyskinesia with facial myokymia.
Who should undergo this test?
Individuals with childhood or adult-onset hyperkinetic movement disorders, especially chorea, dystonia, myoclonus, tremor, or facial myokymia, and family members of known mutation carriers after genetic counselling.
Is fasting required before the ADCY5 gene genetic test?
No, fasting is not required for this blood-based NGS genetic test.
What type of sample is collected for this test?
A blood sample is collected by peripheral venipuncture in an EDTA vacuum tube.
How long does it take to get the reports?
Reports are usually available in 3 to 4 weeks after the sample reaches the laboratory.
Will health insurance cover this genetic test?
Coverage depends on your insurance policy and prior approval from the insurer. DNA Labs India does not directly bill insurance companies.
Can this test detect all genetic causes of dyskinesia?
No, this is a single-gene test that analyzes only the ADCY5 gene. Other genes and broader genetic tests may be needed if the clinical picture is not typical.
What does a negative result mean?
A negative result means no pathogenic variant was detected in the ADCY5 gene. It does not completely exclude ADCY5-related dyskinesia, especially if the clinical suspicion is high.
Is genetic counselling included with this test?
A genetic counselling session to draw a pedigree chart of affected family members is part of the pretest preparation for this test.
Can this test be done during pregnancy?
This test is performed on a blood sample, but prenatal testing should only be arranged through a clinical geneticist and your obstetrician after detailed counselling.
How do I book the ADCY5 gene dyskinesia NGS genetic test?
You can book online through DNA Labs India's website or contact the laboratory directly. Free home sample collection is available across major cities in India.
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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