SCA-23 Spinocerebellar Ataxia Type 23, PDYN Gene Mutation Test
About SCA-23 Spinocerebellar Ataxia Type 23, PDYN Gene Mutation Test
| Field | Value |
|---|---|
| Also Known As | SCA23, Spinocerebellar Ataxia 23, PDYN Gene Mutation Test, Prodynorphin Gene Sequencing |
| Sample Type | Whole blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 25 days |
| Recommended For | Adults with progressive ataxia symptoms; individuals with a family history of autosomal dominant cerebellar ataxia |
| Price | Starting at ₹6,600 |
What is a SCA-23 Spinocerebellar Ataxia Type 23, PDYN Gene Mutation Test?
The SCA-23 Spinocerebellar Ataxia Type 23 PDYN Gene Mutation test is a specialised genetic test that looks for mutations in the prodynorphin (PDYN) gene. Changes in this gene cause spinocerebellar ataxia type 23, a rare inherited condition that affects balance and coordination. A doctor may order this test when a patient shows signs of progressive ataxia or has a family history of hereditary cerebellar disorders. The sample used is a small blood draw collected into an EDTA tube.
What Does a SCA-23 Spinocerebellar Ataxia Type 23, PDYN Gene Mutation Test Measure?
The SCA-23 Spinocerebellar Ataxia Type 23 PDYN Gene Mutation test examines your DNA for specific changes in the PDYN gene. Here is what the analysis covers:
| Component | What It Looks For |
|---|---|
| PDYN gene sequence | Pathogenic (disease-causing) mutations, particularly in exon 4 of the gene |
| Missense mutations | Changes in the DNA that alter the prodynorphin protein produced by the gene |
| Prodynorphin protein precursors | The PDYN gene codes for prodynorphin, the precursor to opioid neuropeptides including dynorphins A and B |
This is a qualitative test. Results are reported as either "pathogenic variant detected" or "no pathogenic variant detected." There are no numeric values or measurement units involved.
Why is a SCA-23 Spinocerebellar Ataxia Type 23, PDYN Gene Mutation Test Done?
A neurologist or clinical geneticist may recommend the SCA-23 Spinocerebellar Ataxia Type 23 PDYN Gene Mutation test in several situations.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to consider this test:
- Progressive difficulty walking or unsteady gait
- Loss of coordination in the limbs (ataxia)
- Slurred or slow speech (dysarthria)
- Abnormal eye movements
- Numbness or weakness in the arms and legs (peripheral neuropathy)
- Difficulty judging distances when reaching for objects (dysmetria)
- Cognitive changes or memory difficulties
Conditions This Test Can Help Detect
This test is used to identify or confirm the following:
- Spinocerebellar ataxia type 23 (SCA23), a slowly progressive, adult-onset neurodegenerative disorder
- Hereditary cerebellar ataxia caused by PDYN gene mutations
- Genetic risk in close relatives of a confirmed SCA23 patient, as SCA23 follows an autosomal dominant inheritance pattern
How to Prepare and What to Expect
No special preparation is needed for the SCA-23 Spinocerebellar Ataxia Type 23 PDYN Gene Mutation test procedure, but a few practical steps will help the process go smoothly.
Do You Need to Fast?
No. Fasting is not required for this genetic test. You may eat and drink normally before your appointment.
Practical Tips Before Your Test
Keep the following points in mind before sample collection:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test.
- Inform your doctor if you have had a recent blood transfusion or bone marrow transplant, as donor DNA in your blood sample may affect results.
- Carry complete family medical records, particularly any information about neurological conditions in relatives.
- Ensure that informed consent is completed before the test is performed.
- Pre-test and post-test genetic counselling is strongly advised if you are undergoing predictive testing.
Step-by-Step Procedure
Here is what happens during the SCA-23 Spinocerebellar Ataxia Type 23 PDYN Gene Mutation test procedure:
- A trained phlebotomist cleans the inside of your elbow or the back of your hand with an antiseptic solution.
- A tourniquet is placed around your upper arm to make the vein easier to locate.
- A fine needle is inserted into the vein to collect approximately 5 mL of blood.
- The blood is drawn into a lavender-top EDTA tube, which contains a preservative that keeps the DNA stable.
- The needle is removed, gentle pressure is applied, and a small bandage is placed over the site.
- The sample is stored at 2 to 8 degrees Celsius and dispatched to a specialised genetics laboratory, where DNA is extracted and analysed using Sanger sequencing.
Factors That Can Affect Accuracy
The following factors may influence the reliability of your result:
- Recent allogeneic blood transfusions or bone marrow transplants (donor DNA can mix with your own)
- Poor sample quality due to improper collection or handling
- Incorrect patient identification at the time of collection
- Delays in transporting the sample under the required refrigerated conditions
Understanding Your SCA-23 Spinocerebellar Ataxia Type 23, PDYN Gene Mutation Test Results
Results should always be reviewed with a qualified doctor, ideally a neurologist or clinical geneticist, who can interpret the finding alongside your clinical symptoms and family history.
| Result | Interpretation |
|---|---|
| No pathogenic variant detected | No known SCA23-causing mutation found in the PDYN gene |
| Pathogenic variant detected | A disease-causing mutation in the PDYN gene is present, consistent with SCA23 |
A negative result does not rule out other types of spinocerebellar ataxia or other genetic causes of ataxia. PDYN mutations account for approximately 0.1% of ataxia cases, making SCA23 one of the rarest subtypes. If symptoms persist, your doctor may recommend testing for other SCA subtypes, such as SCA-5 (SPTBN2 gene) or SCA-14 (PRKCG gene).
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.
How to Maintain Healthy Levels
While SCA23 is a genetic condition and cannot be prevented through lifestyle changes, the following general steps may support overall wellbeing:
- Physiotherapy can help maintain mobility, balance, and strength in those living with progressive ataxia.
- Speech therapy may assist with managing dysarthria over time.
- Genetic counselling is valuable for family planning and for informing at-risk relatives about their options.
Lupin Diagnostics SCA-23 Spinocerebellar Ataxia Type 23, PDYN Gene Mutation Test Price and Home Collection
The SCA-23 Spinocerebellar Ataxia Type 23 PDYN Gene Mutation test cost starts at ₹6,600 at Lupin Diagnostics, and home collection is available across cities.
| City | Approximate Price (₹) |
|---|---|
| BHOPAL | 6600 |
| CHENNAI | 6600 |
| HYDERABAD | 6600 |
| KOLKATA | 6600 |
| NAVI MUMBAI | 6600 |
| PUNE | 6600 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
The SCA-23 Spinocerebellar Ataxia Type 23 PDYN Gene Mutation test online booking process is straightforward:
- Select the test on the Lupin Diagnostics website.
- Choose your city and preferred time slot.
- Opt for home sample collection by a certified phlebotomist, or visit your nearest Lupin Diagnostics centre.
- Receive your report via email or WhatsApp within the stipulated turnaround time.
Home Collection
Lupin Diagnostics offers home collection for the SCA-23 Spinocerebellar Ataxia Type 23 PDYN Gene Mutation test across multiple cities. All samples are processed in NABL-accredited laboratories by experienced genetics professionals. Once ready, your report is delivered digitally for easy access and sharing with your doctor.
Frequently Asked Questions
SCA23 is a very rare, adult-onset, autosomal dominant cerebellar ataxia caused by mutations in the PDYN gene. Genetic testing confirms the diagnosis, guides clinical management, and helps identify at-risk family members who may benefit from screening or counselling.
SCA23 is a late-onset condition. In studied families, the age at which symptoms first appeared ranged from 43 to 56 years. The condition progresses slowly over time.
SCA23 is among the rarest forms of spinocerebellar ataxia. PDYN mutations account for approximately 0.1% of cases across ataxia cohorts that have been tested, meaning very few individuals worldwide are diagnosed with this specific subtype.
Yes. SCA23 follows an autosomal dominant inheritance pattern. This means a person who carries the PDYN mutation has a 50% chance of passing it on to each of their children. Genetic counselling is recommended for affected individuals and their families.
A negative result means no known SCA23-causing mutation was found in the PDYN gene. However, it does not exclude other types of spinocerebellar ataxia. Your neurologist may recommend further testing for other SCA subtypes if your symptoms continue.
There is currently no cure for SCA23. Management focuses on supporting quality of life through physiotherapy, occupational therapy, and speech therapy. Genetic counselling is also an important part of care for affected individuals and their families.
SCA-23 Spinocerebellar Ataxia Type 23, PDYN Gene Mutation Test
