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SPR Gene Dystonia, DOPA-responsive, autosomanl recessive NGS Genetic Test

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SPR Gene Dystonia, DOPA-responsive, autosomanl recessive NGS Genetic Test

Short Name: SPR Gene Dystonia NGS Test

Also known as: Sepiapterin Reductase Deficiency, SPR-related Dystonia

SPR Gene Dystonia, DOPA-responsive, autosomanl recessive 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 from sample receipt. Free home collection in 300+ cities across India.

Next Generation Sequencing (NGS)🏠 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

The purpose of this test is to diagnose SPR gene dystonia by detecting pathogenic mutations in the SPR gene using advanced NGS technology. It helps in confirming the diagnosis, guiding treatment decisions, and informing genetic counseling for affected individuals and their families.

Test Code
1586
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Inform the patient about the test and obtain consent. No specific preparation required.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Collect blood sample using standard venipuncture technique or one drop on FTA card.

Step 3

Report Delivery

Label the sample correctly and store at appropriate temperature for transport.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss implications, benefits, and risks of testing.
2
During the Test:The test involves a simple blood draw or sample collection, which is quick and minimally invasive.
3
After the Test:Results are available in 3-4 weeks. Follow-up with a healthcare provider to discuss findings and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose SPR gene dystonia by detecting pathogenic mutations in the SPR gene using advanced NGS technology. It helps in confirming the diagnosis, guiding treatment decisions, and informing genetic counseling for affected individuals and their families.

How to Prepare

  • Use aseptic technique
  • Collect 3-5 ml blood in EDTA tube
  • For FTA card, apply one drop and air dry
  • Ensure proper labeling with patient details

Doctor's Notes

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

"Early genetic testing for SPR gene dystonia can guide effective treatment with levodopa and improve quality of life."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml blood or equivalent
ContainerEDTA tube for blood, or FTA card for one drop blood
Collection MethodVenipuncture or finger prick

Sample Stability

Blood sample: 24-48 hours at room temperature
FTA card: Stable for months at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect labeling
  • Contaminated sample

Understanding Your Results

Results from the SPR gene dystonia NGS test should be interpreted in conjunction with clinical findings and family history. A positive result confirms the diagnosis, while a negative result may not entirely rule out the condition if mutations are in other genes.
📊

Pathogenic variant detected

Confirms diagnosis of SPR gene dystonia. Consider treatment with levodopa and genetic counseling.

📊

No pathogenic variant detected

SPR gene dystonia unlikely, but clinical correlation needed. Consider other genetic or non-genetic causes.

📊

Variant of uncertain significance (VUS)

Further testing or family studies may be required. Consult genetic counselor.

⚠️ When to Consult a Doctor:

If you experience symptoms like involuntary muscle movements, tremors, or difficulty with daily activities, consult a neurologist. For genetic test results, seek guidance from a genetic counselor or neurologist for management and family planning.

Limitations

  • ⚠Detects only mutations in the SPR gene
  • ⚠May not identify all genetic variants
  • ⚠Does not assess other causes of dystonia

Risks & Considerations

  • ●Minimal risk from blood draw: bruising, infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Previous blood transfusions affecting DNA analysis

Compare With Similar Tests

TestSPR Gene Dystonia, DOPA-responsive, autosomanl recessive NGS Genetic TestTH Gene Dystonia TestGCH1 Gene Dystonia TestGeneral Dystonia Panel
ComparisonSPR Gene Dystonia, DOPA-responsive, autosomanl recessive NGS Genetic Test

Frequently Asked Questions

What is SPR gene dystonia?
SPR gene dystonia is a rare autosomal recessive neurological disorder caused by mutations in the SPR gene, leading to sepiapterin reductase deficiency and affecting neurotransmitter production. It is a type of DOPA-responsive dystonia.
How is SPR gene dystonia diagnosed?
Diagnosis is primarily through genetic testing using Next Generation Sequencing (NGS) to detect mutations in the SPR gene. Additional tests like brain imaging or blood tests may be used to rule out other conditions.
What are the symptoms of SPR gene dystonia?
Common symptoms include involuntary muscle contractions, tremors, difficulty with movements like walking or writing, muscle stiffness, abnormal postures, and impaired fine motor skills.
What is the cost of the NGS genetic test for SPR gene dystonia?
The cost of the SPR Gene Dystonia, DOPA-responsive, autosomal recessive NGS Genetic Test at DNA Labs India is INR 20000.0, which includes home sample collection.
Is the test covered by insurance?
Coverage depends on your insurance provider and policy. Typically, genetic tests may not be fully covered. Check with your insurer for details.
How long does it take to get results?
Results are typically available within 3 to 4 weeks from the date of sample receipt.
What samples are required for the test?
The test requires blood (3-5 ml in EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Is home collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
Can the test be used for prenatal diagnosis?
Yes, prenatal testing may be possible in families with known mutations, but genetic counseling is essential to discuss implications and options.
What treatments are available for SPR gene dystonia?
Treatment often includes levodopa for DOPA-responsive symptoms, along with anticholinergics or benzodiazepines. In severe cases, deep brain stimulation surgery may be considered.
Is genetic counseling included with the test?
Yes, genetic counseling is recommended and often included to help interpret results and discuss family implications.
How accurate is the NGS test for SPR gene mutations?
NGS technology is highly accurate for detecting mutations in the SPR gene, but no test is 100% foolproof. Clinical correlation is always advised.
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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