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PARN Gene Dyskeratosis congenita, autosomal recessive type 6 NGS Genetic Test

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PARN Gene Dyskeratosis congenita, autosomal recessive type 6 NGS Genetic Test

Short Name: PARN Gene DC Type 6 NGS Test

Also known as: DC Type 6, PARN-related dyskeratosis congenita, Autosomal Recessive Dyskeratosis Congenita 6

PARN Gene Dyskeratosis congenita, autosomal recessive type 6 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 TestPediatric and Adolescent🏠 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

To diagnose PARN Gene Dyskeratosis Congenita, Autosomal Recessive Type 6 by detecting mutations in the PARN gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
4899
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

Genetic counseling recommended. Provide clinical history and family pedigree chart.

Method: Venipuncture or FTA card spotting

Step 2

Laboratory Analysis

Blood sample drawn via venipuncture or spotted on FTA card.

Step 3

Report Delivery

Sample sent to lab for NGS analysis. Results available in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw family pedigree chart.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Results delivered in 3-4 weeks via online portal, email, or WhatsApp.

About This Test

Who Should Get This Test

To diagnose PARN Gene Dyskeratosis Congenita, Autosomal Recessive Type 6 by detecting mutations in the PARN gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Use sterile equipment
  • Label samples correctly
  • Transport at ambient temperature

Doctor's Notes

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

"This NGS genetic test is crucial for early and accurate diagnosis of PARN Gene Dyskeratosis Congenita, enabling timely management 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 FTA card spotting

Sample Stability

Blood samples stable for 48 hours at room temperature
FTA cards stable for extended periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PARN gene. Positive results confirm diagnosis, while negative results may require further testing.
📊

No pathogenic variants

Normal; no mutation detected in PARN gene

📊

Pathogenic variant(s) detected

Abnormal; confirms PARN Gene Dyskeratosis Congenita

⚠️ When to Consult a Doctor:

If symptoms of dyskeratosis congenita are present, such as skin pigmentation changes, nail abnormalities, or bone marrow failure, or if there is a family history of the condition.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestPARN Gene Dyskeratosis congenita, autosomal recessive type 6 NGS Genetic TestTERT Gene TestTERC Gene TestDKC1 Gene TestTelomere Length Analysis
ComparisonPARN Gene Dyskeratosis congenita, autosomal recessive type 6 NGS Genetic TestTests for mutations in TERT gene, another cause of dyskeratosis congenitaTests for mutations in TERC gene, associated with autosomal dominant dyskeratosis congenitaTests for mutations in DKC1 gene, linked to X-linked dyskeratosis congenitaMeasures telomere length, which may be shortened in dyskeratosis congenita

Frequently Asked Questions

What is PARN Gene Dyskeratosis Congenita?
It is a rare autosomal recessive genetic disorder caused by mutations in the PARN gene, leading to telomere instability and symptoms like skin abnormalities, nail dystrophy, and bone marrow failure.
What are the common symptoms of this condition?
Symptoms include abnormal skin pigmentation, nail abnormalities, oral leukoplakia, bone marrow failure, lung disease, and increased cancer risk.
How is the NGS Genetic Test performed?
The test uses next-generation sequencing to analyze DNA from a blood sample or extracted DNA, detecting mutations in the PARN gene.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, analysis, and report delivery.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the PARN gene, confirming the diagnosis of PARN Gene Dyskeratosis Congenita.
Is genetic counseling provided with the test?
Yes, genetic counseling is recommended before and after testing to discuss implications and results.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible but requires consultation with a genetic specialist for appropriate sample collection and interpretation.
What are the risks of the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection. Psychological impacts of results should be considered.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS without prior approval.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting mutations, but results should be interpreted in conjunction with clinical findings and genetic counseling.
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

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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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