(SCA-14) Spinocerebellar Ataxia Type 14, PRKCG Gene Mutation: Booking, Price, and Results
About (SCA-14) Spinocerebellar Ataxia Type 14, PRKCG Gene Mutation: Booking, Price, and Results
| Field | Value |
|---|---|
| Also Known As | SCA14 genetic test, PRKCG gene analysis, PKCγ gene mutation test |
| Sample Type | Whole blood (EDTA tube) |
| Fasting Required | No fasting required |
| Report Time | 25 days |
| Recommended For | All genders and ages; individuals with cerebellar ataxia symptoms or a family history of SCA14 |
| Price | Starting at ₹6,600 |
What Is an (SCA-14) Spinocerebellar Ataxia Type 14, PRKCG Gene Mutation?
The PRKCG gene mutation test is a specialised molecular genetic test used to identify disease-causing variants in the PRKCG gene. This gene, located on chromosome 19q13, encodes protein kinase C gamma (PKCγ), an enzyme primarily expressed in neurons of the cerebellum and other parts of the central nervous system. Pathogenic variants in PRKCG are associated with Spinocerebellar Ataxia Type 14, a hereditary neurodegenerative disorder characterised by progressive cerebellar ataxia. The test is typically ordered for individuals with symptoms suggestive of hereditary ataxia or a family history of SCA14. Analysis is usually performed on a blood sample, although other DNA sources such as saliva may also be used.
What Does an (SCA-14) Spinocerebellar Ataxia Type 14, PRKCG Gene Mutation Measure?
The Spinocerebellar Ataxia 14 molecular test examines the PRKCG gene sequence using Sanger sequencing. It looks for specific types of genetic changes that disrupt normal protein function. The following are the key targets of the test:
| Target | What Is Assessed |
|---|---|
| PRKCG gene sequence | Full sequencing to detect any pathogenic (disease-causing) variants |
| Missense mutations | Changes where one amino acid in the protein is replaced by another |
| Deletion mutations | Missing sections of genetic code that impair protein function |
| Exon 4 variants | A hotspot region of the gene where mutations are commonly found in SCA14 patients |
| Variants of uncertain significance (VUS) | Changes detected whose disease-causing role is not yet clearly established |
Why Is an (SCA-14) Spinocerebellar Ataxia Type 14, PRKCG Gene Mutation Done?
This test is ordered when a doctor suspects a hereditary neurological condition affecting coordination and balance. Below are the situations in which it is commonly requested.
Common Symptoms That May Require This Test
The following symptoms may prompt a doctor to recommend a PRKCG gene mutation test:
- Slowly progressive loss of coordination and balance (cerebellar ataxia)
- Slurred or difficult speech (dysarthria)
- Involuntary eye movements (nystagmus)
- Brief, involuntary muscle jerks, particularly in the trunk (axial myoclonus)
- Tremor or Parkinsonian features, such as muscle rigidity
- Gradual cognitive changes
- Sensory loss in the limbs
- Worsening gait and posture
- Trouble swallowing food
Conditions This Test Can Help Detect
A doctor may use this test to investigate or confirm the following:
- Spinocerebellar ataxia type 14 (SCA14), a slowly progressive neurological disorder inherited in an autosomal dominant pattern
- SCA14 accounts for fewer than 1% of all autosomal dominant ataxia diagnoses
- At-risk status in family members of a confirmed SCA14 patient, through predictive genetic testing
How to Prepare and What to Expect
No special preparation is needed for this test, but there are a few important steps to follow before your appointment.
Do You Need to Fast?
No fasting is required before this test. It is a DNA-based genetic test, so food and drink do not affect the sample or results.
Practical Tips Before Your Test
Keep the following in mind before your sample collection:
- Bring a detailed clinical history, including your symptoms, previous test results, and family history, as this is required for the test
- Carry a valid doctor's prescription, which is mandatory for this genetic test
- Ensure a completed genomics clinical information requisition form is submitted at the time of sample collection
- Inform your doctor of all current medications, although medications generally do not affect DNA-based testing
- Consider speaking with a genetic counsellor before testing to understand what the results may mean for you and your family
Step-by-Step Procedure
Here is what to expect during sample collection:
- A trained phlebotomist cleans the skin at the venepuncture site, usually the inner elbow, with an antiseptic solution.
- A small amount of whole blood (2 ml) is drawn into a lavender-top EDTA tube.
- The tube is gently inverted several times to mix the blood with the anticoagulant inside.
- The sample is labelled and stored at 2 to 8°C (refrigerated, not frozen) for transport to the laboratory.
- At the laboratory, DNA is extracted from the blood sample and the PRKCG gene is amplified using PCR (a technique that copies specific sections of DNA).
- Sanger sequencing is then performed on the amplified DNA to identify any mutations in the PRKCG gene.
Factors That Can Affect Accuracy
The following factors may affect the quality of results:
- Insufficient blood volume or poor sample quality at collection
- Improper storage or transport of the sample (the sample must be refrigerated, not frozen)
- Incomplete or missing clinical history and requisition forms, which are needed for accurate variant interpretation
- Laboratory expertise in genetic sequencing and variant classification
Understanding Your (SCA-14) Spinocerebellar Ataxia Type 14, PRKCG Gene Mutation Results
Results from the PRKCG gene analysis are qualitative, meaning they are reported as a mutation detected or not detected, rather than as a number. Your doctor or genetic counsellor will review the findings in the context of your symptoms and family history.
| Result | Meaning |
|---|---|
| No pathogenic variant detected | SCA14 is unlikely, though rare variants not detectable by standard methods cannot be entirely excluded |
| Pathogenic variant detected | Confirms or strongly supports a diagnosis of SCA14; the condition follows an autosomal dominant inheritance pattern, meaning each child of an affected person has a 50% chance of inheriting the variant |
| Variant of uncertain significance (VUS) | A change in the PRKCG gene was found, but there is currently not enough evidence to confirm that it causes disease; further evaluation and clinical correlation are needed |
Disclaimer: 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
Because this is a genetic test, lifestyle changes cannot alter your genetic status. However, the following general tips are relevant if you have a confirmed or suspected diagnosis:
- Avoid alcohol and sedating substances, as these may worsen coordination and balance
- Regular physical therapy can help maintain mobility and functional independence
- Work closely with a neurologist and genetic counsellor to plan appropriate follow-up care
Lupin Diagnostics (SCA-14) Spinocerebellar Ataxia Type 14, PRKCG Gene Mutation Price and Home Collection
The Spinocerebellar Ataxia 14 molecular test is available at Lupin Diagnostics starting at ₹6,600, with home sample collection available across cities.
| City | Approximate Price (₹) |
|---|---|
| Mumbai | ₹6,600 |
| Bhopal | ₹6,600 |
| Bengaluru | ₹6,600 |
| Hyderabad | ₹6,600 |
| Pune | ₹6,600 |
| Chennai | ₹6,600 |
| Kolkata | ₹6,600 |
Disclaimer: Prices are indicative and may vary by location. Please confirm the current price at the time of booking.
How to Book
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 sample collection for the PRKCG gene mutation test across multiple cities, with samples collected by trained phlebotomists. All samples are processed in NABL-accredited laboratories to ensure accurate and reliable results. Digital reports are accessible via email or WhatsApp once ready.
Frequently Asked Questions
SCA14 is an inherited neurological disorder caused by mutations in the PRKCG gene. This gene produces a protein that is essential for the healthy functioning of Purkinje cells in the brain, which control coordination and balance. Mutations lead to a slowly progressive loss of these functions, resulting in ataxia and related symptoms.
This test is recommended for individuals experiencing slowly progressive coordination or balance problems, particularly when accompanied by slurred speech, involuntary eye movements, or muscle jerks. It is also appropriate for at-risk family members of a confirmed SCA14 patient who wish to know their genetic status.
The test requires a standard blood draw from a vein in the arm. Most people experience only brief, mild discomfort at the needle site, similar to any routine blood test. The procedure takes just a few minutes.
Results for the PRKCG gene analysis are typically available within 25 days. This accounts for DNA extraction, PCR amplification, Sanger sequencing, and the time required to analyse and interpret the sequencing data before issuing the final report.
Not necessarily. The age at which symptoms begin, their severity, and how the condition progresses vary considerably between individuals. Some people carrying the PRKCG pathogenic variant have been reported to remain symptom-free even beyond the age of 60. Molecular genetic testing cannot predict these outcomes.
Once a PRKCG pathogenic variant has been confirmed in an affected family member, prenatal testing for at-risk pregnancies and preimplantation genetic testing are both possible. Genetic counselling is strongly recommended before pursuing either option to understand the implications fully.
There is currently no cure for SCA14. Management focuses on symptom control and maintaining quality of life through physical therapy, occupational therapy, speech therapy, and medications that address specific symptoms such as myoclonus. Life expectancy is not shortened by this condition.
(SCA-14) Spinocerebellar Ataxia Type 14, PRKCG Gene Mutation: Booking, Price, and Results
