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DKC1 Gene Hoyeraal-Hreidarsson syndrome NGS Genetic Test

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DKC1 Gene Hoyeraal-Hreidarsson syndrome NGS Genetic Test

Short Name: DKC1 HHS NGS Test

Also known as: HHS Genetic Test, DKC1 Gene Mutation Analysis, Dyskeratosis Congenita Variant Test

DKC1 Gene Hoyeraal-Hreidarsson syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are available 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 NGS genetic test is to detect pathogenic variants in the DKC1 gene, confirm a clinical diagnosis of Hoyeraal-Hreidarsson syndrome, and assist in genetic counseling, family planning, and multidisciplinary management decisions.

Test Code
4121
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are available 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Fasting is not necessary. Prior genetic counseling is recommended.

Method: Peripheral blood collection or FTA card spot

Step 2

Laboratory Analysis

For blood sample, a venous blood sample will be drawn. For FTA card, one drop of blood will be placed on the card and allowed to dry.

Step 3

Report Delivery

No restrictions. You can return to your regular activities immediately.

Timeline: Reports are available 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation. A genetic counseling session is recommended before testing.
2
During the Test:The sample collection typically takes less than 10 minutes. For FTA card, a single drop of blood from a fingerstick is collected.
3
After the Test:You may lose a small amount of blood if venipuncture; no aftercare restrictions.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic variants in the DKC1 gene, confirm a clinical diagnosis of Hoyeraal-Hreidarsson syndrome, and assist in genetic counseling, family planning, and multidisciplinary management decisions.

How to Prepare

  • Bring a doctor's prescription or valid identification.
  • Ensure the sample is labeled correctly with your name and date of birth.
  • If collecting at home, follow the instructions provided in the collection kit.

Doctor's Notes

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

"Genetic testing for Hoyeraal-Hreidarsson syndrome is crucial for families with unexplained bone marrow failure or neurological symptoms in children. As an obstetrician, I often encounter parents with a family history of this condition; NGS testing of DKC1 enables accurate genetic counseling and reproductive planning. Early confirmation can significantly influence management decisions and improve outcomes through timely interventions."

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 / DNA vial / FTA card
Collection MethodPeripheral blood collection or FTA card spot

Sample Stability

Whole blood (EDTA): 24 hours at room temperature, 7 days at 2-8°C, up to 30 days at -20°C.
Extracted DNA: up to 2 years at -20°C or below.
Dried blood on FTA card: stable at room temperature for several years.
Sample Rejection Criteria:
  • Hemolyzed, clotted, or severely degraded blood samples.
  • Mismatched patient details on sample and requisition form.
  • Sample in a plain tube without anticoagulant.
  • Improperly stored FTA card (exposed to moisture or heat).

Understanding Your Results

The DKC1 gene NGS test result should be interpreted by a qualified medical geneticist or genetic counselor. Mutations in the DKC1 gene may cause Hoyeraal-Hreidarsson syndrome. The report will list any detected variants and classify them according to ACMG guidelines.
📊

Pathogenic or likely pathogenic variant detected

Confirms the diagnosis of DKC1-related Hoyeraal-Hreidarsson syndrome. Discuss phenotype correlation, inheritance, and family testing.

📊

Variant of uncertain significance (VUS)

Insufficient evidence to determine pathogenicity. Family segregation studies and functional studies may be recommended.

📊

No pathogenic variant detected

A DKC1 mutation is less likely. Consider other genes associated with telomere biology disorders or alternative diagnoses.

⚠️ When to Consult a Doctor:

If you or your child experience unexplained bone marrow failure, recurrent infections, skin pigmentation changes, or neurological symptoms such as microcephaly and cerebellar hypoplasia, consult a medical geneticist or pediatric neurologist.

Limitations

  • ⚠This test analyzes only the DKC1 gene; HHS can also be caused by mutations in other telomere-related genes (e.g., TINF2, TERT, RTEL1).
  • ⚠Delayed reporting due to complex variants or repeat analysis may occur.
  • ⚠Large deletions/duplications may not be detected by NGS alone; additional copy number analysis is required.
  • ⚠Variants of uncertain significance may require further familial segregation studies.

Risks & Considerations

  • ●Minimal risks associated with blood draw include slight pain, bruising, and rarely infection at the puncture site.

Interfering Factors

  • ●Recent allogeneic bone marrow transplantation causing donor-derived DNA in circulation.
  • ●Sample contamination or DNA degradation.
  • ●Low DNA quantity or quality.
  • ●Patient with mosaic pathogenic variant may result in a below-threshold variant allele frequency.

Compare With Similar Tests

TestDKC1 Gene Hoyeraal-Hreidarsson syndrome NGS Genetic TestTelomere Length AnalysisDyskeratosis Congenita / HHS NGS PanelWhole Exome Sequencing
ComparisonDKC1 Gene Hoyeraal-Hreidarsson syndrome NGS Genetic Test

Frequently Asked Questions

What is the DKC1 gene?
The DKC1 gene provides instructions for making dyskerin, a protein essential for the production of telomerase and the maintenance of telomere lengths. Mutations in this gene can cause Hoyeraal-Hreidarsson syndrome and dyskeratosis congenita.
What is Hoyeraal-Hreidarsson syndrome?
Hoyeraal-Hreidarsson syndrome is a rare multisystem genetic disorder characterized by bone marrow failure, immunodeficiency, neurological abnormalities such as cerebellar hypoplasia and microcephaly, and other clinical features. It is considered a severe variant of dyskeratosis congenita.
How is HHS diagnosed?
Diagnosis is based on clinical features, laboratory findings such as telomere length measurement, and genetic testing. NGS-based DNA sequencing for DKC1 gene mutations provides definitive confirmation.
What does the NGS genetic test for DKC1 include?
This test focuses on the coding regions and splice sites of the DKC1 gene using next-generation sequencing technology to detect pathogenic variants associated with Hoyeraal-Hreidarsson syndrome.
Who should undergo this test?
Individuals with symptoms suggestive of HHS or dyskeratosis congenita, those with a family history of these conditions, and individuals with shortened telomeres associated with unexplained bone marrow failure may benefit from this test.
What is the cost of the test?
The approximate cost is INR 20,000. DNA Labs India provides this test at INR 20,000 with free home sample collection in many cities across India.
What sample is required?
The test can be performed on venous blood, extracted DNA, or a single drop of blood on an FTA card.
Is fasting required before sample collection?
No, fasting is not required for this genetic test.
How long does it take to receive results?
Results are generally available within 3 to 4 weeks from the time the sample is received.
Can this test detect all cases of HHS?
No, HHS can also be caused by mutations in other genes. This test only analyzes the DKC1 gene. If no mutation is found, other genetic tests may be recommended.
Is genetic counseling recommended before testing?
Yes, it is strongly recommended to have a genetic counselling session to discuss the implications of testing, obtain a family pedigree, and understand possible outcomes.
How will I receive the test report?
Reports are delivered through an online portal, by email, or by WhatsApp, along with a detailed clinical report.
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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