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DNA Labs India

ACD Gene Dyskeratosis congenita, autosomal recessive type 7 NGS Genetic Test

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ACD Gene Dyskeratosis congenita, autosomal recessive type 7 NGS Genetic Test

Short Name: ACD Gene DC AR7 NGS Test

Also known as: DC Type 7, ACD-related Dyskeratosis Congenita, Autosomal Recessive Dyskeratosis Congenita 7

ACD Gene Dyskeratosis congenita, autosomal recessive type 7 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 diagnose autosomal recessive type 7 dyskeratosis congenita by identifying pathogenic mutations in the ACD gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
4900
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

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

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising; resume normal activities.

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:Blood sample collection takes about 10-15 minutes.
3
After the Test:No specific post-test care; monitor puncture site for any adverse effects.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose autosomal recessive type 7 dyskeratosis congenita by identifying pathogenic mutations in the ACD gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure patient is relaxed
  • Use aseptic technique
  • Label sample correctly
  • Transport at ambient temperature

Doctor's Notes

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

"Genetic testing for ACD gene mutations is essential for early diagnosis and management of dyskeratosis congenita, especially in families with a history of the disorder."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Stable for 48 hours at room temperature (15-25°C)
Stable for 72 hours at 2-8°C
Sample Rejection Criteria:
  • Hemolyzed sample
  • Clotted sample
  • Insufficient volume
  • Incorrect container

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ACD gene. Positive results confirm diagnosis, while negative results may require further testing if clinical suspicion remains.
Positive: Pathogenic variant detected, consistent with ACD-related dyskeratosis congenita
Negative: No pathogenic variants detected, but clinical features may suggest other genetic causes
Variant of uncertain significance (VUS): Requires further evaluation and genetic counseling
⚠️ When to Consult a Doctor:

Consult a healthcare provider if you experience symptoms such as skin pigmentation changes, nail abnormalities, unexplained fatigue, or have a family history of dyskeratosis congenita.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires clinical correlation for diagnosis
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Minimal discomfort during blood draw

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample storage
  • ●Recent blood transfusion

Frequently Asked Questions

What is ACD Gene Dyskeratosis Congenita?
It is a rare genetic disorder caused by mutations in the ACD gene, leading to telomere dysfunction and symptoms like skin pigmentation changes, nail dystrophy, and bone marrow failure.
What are the symptoms of autosomal recessive type 7?
Symptoms include abnormal skin pigmentation, nail malformation, bone marrow failure, lung disease, gastrointestinal issues, and increased cancer risk.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing to analyze DNA from a blood sample for mutations in the ACD gene.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates the presence of a pathogenic variant in the ACD gene, confirming the diagnosis of dyskeratosis congenita type 7.
Is genetic counseling provided?
Yes, a genetic counseling session is recommended before testing to draw a pedigree chart and discuss implications.
Can the test be used for prenatal diagnosis?
This test is primarily for diagnostic purposes; prenatal testing may require specialized consultation with a geneticist.
What are the risks of the test?
Risks are minimal and include minor bruising at the blood draw site and rare infection risk.
How accurate is the NGS test?
NGS technology provides high-resolution data for accurate detection of mutations, but results should be correlated with clinical findings.
What should I do if I have a family history?
If you have a family history of dyskeratosis congenita, consult a healthcare provider for genetic testing and 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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