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SLC30A10 Gene Hypermanganesemia with dystonia, polycythemia and cirrhosis NGS Genetic Test

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SLC30A10 Gene Hypermanganesemia with dystonia, polycythemia and cirrhosis NGS Genetic Test

Short Name: SLC30A10 Gene Test

Also known as: SLC30A10-related disorder, Manganese transport disorder

SLC30A10 Gene Hypermanganesemia with dystonia, polycythemia and cirrhosis 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. Free home collection in 300+ cities across India.

Next-Generation Sequencing🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the SLC30A10 Gene NGS Genetic Test is to identify mutations in the SLC30A10 gene that cause hypermanganesemia with dystonia, polycythemia, and cirrhosis. This test aids in confirming the diagnosis, guiding treatment decisions, and facilitating genetic counseling for family members.

Test Code
2098
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Ensure proper genetic counseling session is scheduled. Provide clinical history and family pedigree chart.

Method: Venipuncture or finger-prick for FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture in EDTA tube or one drop on FTA card. Minimal discomfort expected.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule genetic counseling, provide clinical history, and sign consent forms.
2
During the Test:Blood sample collection; procedure takes about 10-15 minutes.
3
After the Test:Sample sent to lab; results available in 3-4 weeks via online portal or email.

About This Test

Who Should Get This Test

The purpose of the SLC30A10 Gene NGS Genetic Test is to identify mutations in the SLC30A10 gene that cause hypermanganesemia with dystonia, polycythemia, and cirrhosis. This test aids in confirming the diagnosis, guiding treatment decisions, and facilitating genetic counseling for family members.

How to Prepare

  • Use sterile techniques for blood collection
  • Label sample with patient details and date
  • For FTA card, air-dry before packaging
  • Transport at ambient room temperature within 48 hours

Doctor's Notes

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

"This test is crucial for diagnosing rare genetic disorders causing manganese accumulation, aiding in early intervention and family counseling."

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 as required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick for FTA card

Sample Stability

Blood in EDTA tube
Extracted DNA
FTA card sample
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or missing patient information
  • Sample received beyond stability period

Understanding Your Results

Results are interpreted based on the detection of pathogenic variants in the SLC30A10 gene. Positive findings confirm the diagnosis of hypermanganesemia with dystonia, polycythemia, and cirrhosis, while negative results may require further clinical evaluation or testing.
📊

Confirms diagnosis; genetic counseling recommended for family

📊

Unlikely SLC30A10-related disorder; consider other causes

📊

Further testing or family studies may be needed

📊

Asymptomatic carrier; risk for offspring if partner is also carrier

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms such as dystonia, polycythemia, liver problems, seizures, or developmental delays, especially with a family history of genetic disorders.

Limitations

  • May not detect large deletions or duplications
  • Variants of uncertain significance may be identified
  • Cannot rule out other genetic causes of similar symptoms
  • Test sensitivity depends on mutation type and coverage

Risks & Considerations

  • Minor bruising or discomfort at blood draw site
  • Very low risk of infection
  • Emotional impact of genetic results

Interfering Factors

  • Sample contamination
  • Poor DNA quality or insufficient quantity
  • Hemolyzed or clotted blood samples
  • Recent blood transfusions may affect results

Compare With Similar Tests

TestSLC30A10 Gene Hypermanganesemia with dystonia, polycythemia and cirrhosis NGS Genetic TestWhole Exome SequencingSLC30A10 Gene Sequencing PanelManganese Level Blood TestLiver Function Tests
ComparisonSLC30A10 Gene Hypermanganesemia with dystonia, polycythemia and cirrhosis NGS Genetic TestBroader analysis of all genes; higher cost but useful for undiagnosed conditionsTargeted test for SLC30A10; faster turnaround but limited to known genesMeasures manganese levels; not genetic, but supportive for diagnosisAssesses liver health; complementary to genetic test for cirrhosis

Frequently Asked Questions

What is SLC30A10 Gene Hypermanganesemia?
It is a rare genetic disorder caused by mutations in the SLC30A10 gene, leading to excessive manganese accumulation and symptoms like dystonia, polycythemia, and cirrhosis.
What are the common symptoms of this condition?
Symptoms include dystonia (movement disorders), polycythemia (high red blood cells), cirrhosis (liver scarring), seizures, speech difficulties, and developmental delays.
How is the NGS Genetic Test performed?
The test uses next-generation sequencing to analyze the SLC30A10 gene from a blood or DNA sample, identifying genetic mutations associated with the disorder.
What is the cost of the SLC30A10 Gene Test?
The test costs INR 20000 at DNA Labs India, with possible discounts for online bookings.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home collection for online bookings across India.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
What do positive test results indicate?
Positive results confirm the presence of pathogenic mutations in the SLC30A10 gene, indicating the disorder. Genetic counseling is recommended.
Is this test covered by health insurance?
Coverage depends on the insurance provider and scheme. Check with your insurer for details.
Can this test be used for prenatal diagnosis?
Yes, with appropriate genetic counseling, it can be used for prenatal testing in families with known mutations.
What are the treatment options for this disorder?
Treatment is supportive, including medications for symptoms, dietary changes to reduce manganese intake, and management of complications like cirrhosis.
How accurate is the NGS Genetic Test?
The test has high accuracy (>99%) for detecting variants in the SLC30A10 gene, but may miss some mutation types like large deletions.
Where can I get this test done in India?
DNA Labs India provides this test with home collection services in major cities like Mumbai, Delhi, Bangalore, and others listed on the website.
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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