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NHP2 Gene Dyskeratosis congenita, autosomal recessive type 2 NGS Genetic Test

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NHP2 Gene Dyskeratosis congenita, autosomal recessive type 2 NGS Genetic Test

Short Name: NHP2 DC Type 2 NGS Test

Also known as: NHP2-related dyskeratosis congenita, Autosomal recessive dyskeratosis congenita type 2

NHP2 Gene Dyskeratosis congenita, autosomal recessive type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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 TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify pathogenic mutations in the NHP2 gene to confirm a diagnosis of Dyskeratosis Congenita, autosomal recessive type 2, guide treatment strategies, and facilitate genetic counseling for affected families.

Test Code
4896
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, Next-Generation Sequencing
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with NHP2 gene dyskeratosis congenita.

Method: Blood draw

Step 2

Laboratory Analysis

A simple blood draw is performed by a trained phlebotomist.

Step 3

Report Delivery

Sample is processed in the laboratory for DNA extraction and sequencing.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:The test involves Next-Generation Sequencing of the NHP2 gene from a blood sample.
3
After the Test:Results are reviewed by a geneticist, and a report is provided with interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the NHP2 gene to confirm a diagnosis of Dyskeratosis Congenita, autosomal recessive type 2, guide treatment strategies, and facilitate genetic counseling for affected families.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Label samples correctly

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the NHP2 gene. A positive result confirms genetic predisposition to Dyskeratosis Congenita type 2, while a negative result suggests no detectable mutations, but does not rule out other genetic causes.
📊

Positive

Pathogenic variant detected in NHP2 gene, confirming autosomal recessive dyskeratosis congenita type 2. Genetic counseling recommended.

📊

Negative

No pathogenic variants detected. Clinical correlation and further testing may be needed if symptoms persist.

📊

Variant of Uncertain Significance

Genetic variant found but significance unknown. Follow-up testing and family studies advised.

⚠️ When to Consult a Doctor:

Consult a geneticist or dermatologist if symptoms such as abnormal skin pigmentation, nail changes, or oral leukoplakia are present, or if there is a family history of dyskeratosis congenita.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation

Risks & Considerations

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

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Frequently Asked Questions

What is the NHP2 Gene Dyskeratosis Congenita Test?
It is a genetic test using Next-Generation Sequencing to detect mutations in the NHP2 gene, which causes autosomal recessive dyskeratosis congenita type 2.
Who should consider this test?
Individuals with symptoms like abnormal skin pigmentation, nail changes, or oral leukoplakia, or those with a family history of dyskeratosis congenita.
How is the test performed?
A blood sample is collected and analyzed using NGS technology to sequence the NHP2 gene.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is offered across India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What do the results mean?
A positive result indicates a pathogenic mutation in the NHP2 gene, confirming the diagnosis. A negative result means no mutations were detected.
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 used for prenatal diagnosis?
It may be used for carrier testing or prenatal diagnosis in families with known mutations, but genetic counseling is essential.
What are the symptoms of NHP2-related dyskeratosis congenita?
Symptoms include abnormal skin pigmentation, nail dystrophy, oral leukoplakia, short stature, bone marrow failure, lung disease, and increased cancer risk.
How accurate is the test?
The test uses advanced NGS technology, providing high accuracy for detecting mutations in the NHP2 gene.
What should I do after receiving the results?
Consult a geneticist or healthcare provider for interpretation, management options, 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

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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