Dystonia Gene Panel Test: Booking, Price, and Results

The Dystonia Gene Panel Test is a specialised genetic test that examines multiple genes associated with dystonia, a group of movement disorders caused by sustained, involuntary muscle contractions. It uses Next-Generation Sequencing (NGS), an advanced technology that reads many genes at once, to identify mutations that may be responsible for a patient's symptoms. Doctors may order this test when a hereditary cause of dystonia is suspected. It is also known as the Dystonia NGS panel or Dystonia genetic panel.

A neurologist or geneticist may request this test for several clinical reasons. The sections below outline the common triggers and conditions it can help identify.

Common Symptoms That May Require This Test

The following symptoms are typical reasons a doctor may recommend the Dystonia Gene Panel Test.

• Involuntary, repetitive muscle contractions or spasms
• Parts of the body twisting into abnormal positions, such as the neck turning to one side or feet turning inwards
• Tremors (shaking) affecting the hands, head, or voice
• Dragging of the foot while walking
• Voice changes or difficulty speaking clearly
• Early-onset movement difficulties, especially in children
• A family history of dystonia or related movement disorders

Conditions This Test Can Help Detect

This test can support the diagnosis of several genetic forms of dystonia, including:

• Oppenheim dystonia (DYT-TOR1A), one of the most common inherited forms
• Dopa-responsive dystonia (DYT/PARK-GCH1)
• Myoclonus-dystonia (DYT-SGCE), where muscle jerks accompany abnormal postures
• Rapid-onset dystonia-parkinsonism (DYT/PARK-ATP1A3)
• Childhood and adult-onset familial dystonia (DYT-THAP1)
• Combined dystonia, where dystonia occurs alongside parkinsonism or myoclonus
• Paroxysmal dystonias, which are episodic movement disorders
• Neurodegeneration with brain iron accumulation (NBIA) syndromes presenting with dystonia

This test may use different sample types depending on the clinical indication. Home collection may be available for peripheral blood or saliva samples. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision. Genetic counselling may be recommended before and after testing.

Peripheral Blood (most common):

1. A trained phlebotomist cleans a vein, usually in the arm, with an antiseptic swab.
2. A small amount of blood (3 ml) is drawn into a lavender-top EDTA tube.
3. The sample is labelled with your details and the date of collection.
4. It is stored at 2 to 8 degrees Celsius and transported to the laboratory.
5. DNA is extracted and analysed using next-generation sequencing (NGS) technology.
6. Results are typically available within 35 days.

Buccal Swab/Saliva Collection

1. A healthcare professional or trained staff member collects the sample.
2. For a buccal swab, a soft swab is gently rubbed inside the cheek to collect cells.
3. For saliva collection, the patient provides a saliva sample in a sterile container.
4. The sample is labelled and sent to the laboratory.
5. DNA is extracted and analysed and results are typically available within 35 days.

Chorionic Villus Sample (CVS) or Amniotic Fluid (when required):

1. This sample is collected by a specialist doctor in a clinical setting.
2. For CVS, a small amount of placental tissue (30 mg) is taken using a fine needle or catheter.
3. For amniotic fluid, a sample (20 ml) is collected via a procedure called amniocentesis.
4. The sample is placed in a sterile container or Falcon tube and labelled.
5. It is refrigerated at 2 to 8 degrees Celsius and sent to the laboratory promptly.
6. DNA is extracted and sequenced; results are available within 35 days.

Results from a genetic test require careful interpretation by a qualified specialist. The table below shows how results are typically reported.

These ranges are general guidelines. Your doctor will interpret your results based on your age, health history, and other factors. Always consult a qualified healthcare professional for personalised medical advice.

The Dystonia Gene Panel Test is available at Lupin Diagnostics starting at ₹21,600. Home collection may be available for eligible sample types such as peripheral blood or saliva. Specialised prenatal samples such as CVS or amniotic fluid are collected at authorised healthcare facilities under medical supervision.

Prices are indicative and may vary by location. Please confirm the current price at the time of booking.

Lupin Diagnostics offers home collection for eligible sample types across multiple cities. Specialised prenatal samples such as CVS or amniotic fluid require collection at authorised healthcare facilities. All samples are processed in NABL-accredited laboratories by experienced specialists. Digital reports are shared via email or WhatsApp once ready.