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SPTA1 Gene Spherocytosis type 3 NGS Genetic Test

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SPTA1 Gene Spherocytosis type 3 NGS Genetic Test

Short Name: SPTA1 Spherocytosis Type 3 NGS Test

Also known as: SPTA1 Gene Test for Spherocytosis, Hereditary Spherocytosis Type 3 Genetic Test, Alpha-Spectrin Gene Test

SPTA1 Gene Spherocytosis type 3 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.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect mutations in the SPTA1 gene associated with hereditary spherocytosis type 3, confirming diagnosis, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.

Test Code
5625
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

No specific preparation required. Ensure genetic counseling session is scheduled to discuss family history and test implications.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or a finger prick for FTA card collection. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Resume normal activities. Results will be available in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss family history and test rationale. No fasting required unless specified.
2
During the Test:Blood sample collection via venipuncture or finger prick. The procedure takes about 10-15 minutes.
3
After the Test:Monitor the puncture site for any discomfort. Await results in 3 to 4 weeks and follow up with genetic counseling.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the SPTA1 gene associated with hereditary spherocytosis type 3, confirming diagnosis, guiding treatment decisions, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • Fast for 8-12 hours if specified by physician
  • Avoid strenuous activity before sample collection
  • Bring identification and prescription if available

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This genetic test is crucial for confirming hereditary spherocytosis type 3, aiding in treatment planning and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect sample type or container
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SPTA1 gene. Positive results confirm hereditary spherocytosis type 3, while negative results may require further testing.
📊

Positive for pathogenic variants

Confirms diagnosis of hereditary spherocytosis type 3. Genetic counseling and treatment planning recommended.

📊

Negative for pathogenic variants

No mutations detected in SPTA1 gene. Consider other genetic or non-genetic causes of spherocytosis.

📊

Variant of uncertain significance

Further testing or family studies may be needed for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms of anemia, have a family history of spherocytosis, or receive a positive test result for guidance on management and treatment.

Limitations

  • May not detect all possible mutations in SPTA1 gene
  • Results require interpretation by a genetic specialist
  • Does not rule out other causes of spherocytosis

Risks & Considerations

  • Minor pain or bruising at the blood draw site
  • Rare risk of infection or fainting

Interfering Factors

  • Poor sample quality or contamination
  • Hemolyzed blood sample
  • Insufficient DNA quantity

Frequently Asked Questions

What is the SPTA1 Gene Spherocytosis Type 3 NGS Genetic Test?
This test uses Next Generation Sequencing to detect mutations in the SPTA1 gene, which causes hereditary spherocytosis type 3, a form of hemolytic anemia.
Who should consider this test?
Individuals with symptoms of anemia, jaundice, or splenomegaly, or those with a family history of hereditary spherocytosis.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to identify genetic mutations in the SPTA1 gene.
What is the cost of the test in India?
The test costs INR 20000 at DNA Labs India, with free home sample collection available.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required before the test?
No, fasting is not required unless specified by your physician.
What do positive results mean?
Positive results confirm a diagnosis of hereditary spherocytosis type 3, guiding treatment and genetic counseling.
Are there any risks associated with the test?
Risks are minimal, such as minor discomfort from blood draw. Serious complications are rare.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What is the role of genetic counseling?
Genetic counseling helps interpret results, discuss implications for family planning, and provide support.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting mutations, but results should be interpreted by a genetic specialist.
What other tests might be recommended alongside this test?
Related tests include other spherocytosis gene tests, complete blood count, and reticulocyte count for comprehensive evaluation.
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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Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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