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ABCC6 Gene Pseudoxanthoma elasticum, forme fruste NGS Genetic Test

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ABCC6 Gene Pseudoxanthoma elasticum, forme fruste NGS Genetic Test

Short Name: ABCC6 PXE Forme Fruste NGS Test

Also known as: PXE, Pseudoxanthoma elasticum, Forme fruste PXE, ABCC6-related PXE

ABCC6 Gene Pseudoxanthoma elasticum, forme fruste NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing on Blood samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify pathogenic mutations in the ABCC6 gene using NGS technology for the diagnosis of Pseudoxanthoma elasticum, particularly the forme fruste variant, to guide clinical management and genetic counseling.

Test Code
5117
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS, Next-Generation Sequencing
Step 1

Sample Collection

No special preparation is required. Genetic counseling is recommended prior to testing.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean and dry.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss implications, benefits, and limitations of the test.
2
During the Test:The blood sample is processed in the lab, and DNA is extracted for NGS analysis of the ABCC6 gene.
3
After the Test:Results are reviewed by a geneticist and reported with interpretation guidance.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the ABCC6 gene using NGS technology for the diagnosis of Pseudoxanthoma elasticum, particularly the forme fruste variant, to guide clinical management and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label the sample correctly with patient details
  • Transport the sample at ambient temperature as per guidelines

Doctor's Notes

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

"Genetic testing for PXE is essential for early detection, especially in forme fruste cases, to manage cardiovascular and ocular complications effectively."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Stable at room temperature (15-30°C) for up to 24 hours
Refrigerate (2-8°C) if analysis is delayed beyond 24 hours
Avoid repeated freeze-thaw cycles
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the ABCC6 gene. Positive results confirm PXE diagnosis, while negative results may require further clinical evaluation.
Pathogenic variants detected: Confirms diagnosis of PXE, including forme fruste
No pathogenic variants detected: PXE less likely, but clinical correlation is needed
Variants of uncertain significance: May require additional testing or family studies
Results should be interpreted by a geneticist in conjunction with clinical findings
⚠️ When to Consult a Doctor:

Consult a doctor if you have symptoms of PXE, a family history of the disorder, or after receiving genetic test results for appropriate management and counseling.

Limitations

  • ⚠May not detect all possible mutations in the ABCC6 gene
  • ⚠Requires genetic counseling for result interpretation
  • ⚠Does not assess for other genetic disorders
  • ⚠Results may be inconclusive in some cases

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results, including anxiety or distress
  • ●Potential for incidental findings unrelated to PXE

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●DNA degradation due to improper storage
  • ●Presence of inhibitors in the blood sample

Compare With Similar Tests

TestABCC6 Gene Pseudoxanthoma elasticum, forme fruste NGS Genetic TestABCC6 Gene Full SequencingPXE Panel TestSkin Biopsy for PXEWhole Exome Sequencing
ComparisonABCC6 Gene Pseudoxanthoma elasticum, forme fruste NGS Genetic Test

Frequently Asked Questions

What is the ABCC6 Gene PXE Forme Fruste NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the ABCC6 gene, helping diagnose Pseudoxanthoma elasticum, especially the milder forme fruste variant.
Who should consider this test?
Individuals with symptoms of PXE, such as skin papules or vision issues, those with a family history of PXE, or anyone suspected of having forme fruste PXE.
How is the test performed?
A blood sample is collected and analyzed in the lab using NGS technology to identify mutations in the ABCC6 gene.
What is the cost of the test in India?
The test costs INR 20000.0, with free home sample collection available across India.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic mutations in the ABCC6 gene are detected, confirming PXE diagnosis, or if no mutations are found, suggesting PXE is less likely.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort but is generally not painful.
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 are the risks of the test?
Risks are minimal, including slight bruising from the blood draw and potential psychological impact from the results.
How accurate is the test?
The test is highly accurate for detecting known mutations in the ABCC6 gene, but it may not identify all possible variants.
Do I need genetic counseling?
Yes, genetic counseling is recommended before and after the test to understand the implications and manage results appropriately.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

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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