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PIEZO1 Gene Dehydrated hereditary stomatocytosis NGS Genetic Test

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PIEZO1 Gene Dehydrated hereditary stomatocytosis NGS Genetic Test

Short Name: PIEZO1 DHS NGS Test

Also known as: DHS Genetic Test, PIEZO1 Mutation Test, Dehydrated Stomatocytosis NGS Test

PIEZO1 Gene Dehydrated hereditary stomatocytosis NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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

To diagnose Dehydrated Hereditary Stomatocytosis caused by PIEZO1 gene mutations, guide clinical management, and support genetic counseling for affected individuals and families.

Test Code
2656
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
NGS Technology
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling to draw a pedigree chart.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Sample is processed and sent for NGS analysis. Maintain documentation for follow-up.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended.
2
During the Test:Blood sample is collected and processed for NGS analysis.
3
After the Test:Results are reviewed with a geneticist for interpretation and next steps.

About This Test

Who Should Get This Test

To diagnose Dehydrated Hereditary Stomatocytosis caused by PIEZO1 gene mutations, guide clinical management, and support genetic counseling for affected individuals and families.

How to Prepare

  • Fast for not required
  • Bring referral note if available
  • Ensure sample is labeled correctly

Doctor's Notes

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

"This test is essential for diagnosing DHS, guiding treatment, and family planning counseling due to its autosomal dominant inheritance."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card stable for extended periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect sample type

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PIEZO1 gene associated with DHS.
Positive: Pathogenic variant detected, confirming DHS diagnosis
Negative: No pathogenic variants detected, but clinical correlation needed
Variant of uncertain significance: Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If symptoms persist, family history is positive, or results indicate a pathogenic variant.

Limitations

  • May not detect all genetic variants
  • Requires interpretation by a geneticist
  • Results should be correlated with clinical findings

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Improper sample handling

Compare With Similar Tests

TestPIEZO1 Gene Dehydrated hereditary stomatocytosis NGS Genetic Test
ComparisonPIEZO1 Gene Dehydrated hereditary stomatocytosis NGS Genetic Test

Frequently Asked Questions

What is PIEZO1 Gene Dehydrated Hereditary Stomatocytosis?
It is a rare genetic disorder caused by mutations in the PIEZO1 gene, leading to dehydrated red blood cells and symptoms like anemia.
How is DHS diagnosed?
Diagnosis involves clinical evaluation, lab tests like CBC, and genetic testing such as NGS to confirm PIEZO1 mutations.
What does the NGS Genetic Test involve?
It uses Next-Generation Sequencing to analyze the PIEZO1 gene for mutations from a blood or DNA sample.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with home collection available.
Is home sample collection available?
Yes, free home collection is offered across India for online bookings.
How long does it take to get results?
Results are typically delivered within 3 to 4 weeks.
What are the symptoms of DHS?
Symptoms include anemia, jaundice, fatigue, enlarged spleen, and increased risk of blood clots.
Is DHS hereditary?
Yes, DHS is inherited in an autosomal dominant manner, requiring only one mutated gene copy.
What should I do before the test?
Provide clinical history and undergo genetic counseling to prepare for testing.
How is the sample collected?
A blood sample is taken via venipuncture or one drop on an FTA card.
What do the results mean?
Results indicate if pathogenic PIEZO1 mutations are present, confirming DHS diagnosis.
Who should consider this test?
Individuals with symptoms of DHS, family history, or unexplained hemolytic anemia should consider testing.
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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