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C15orf41 Gene Dyserythropoietic anemia, congenital, type 1B NGS Genetic Test

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C15orf41 Gene Dyserythropoietic anemia, congenital, type 1B NGS Genetic Test

C15orf41 Gene Dyserythropoietic anemia, congenital, type 1B NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS 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 Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose C15orf41 gene mutations causing congenital dyserythropoietic anemia type 1B through next-generation sequencing, enabling accurate identification and management of this rare genetic disorder.

Test Code
2676
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
Step 1

Sample Collection

Clinical history of the patient, including symptoms and family history, should be reviewed. A genetic counseling session is recommended to draw a pedigree chart of family members affected with C15orf41 gene-related disorders.

Step 2

Laboratory Analysis

Standard blood collection procedure via venipuncture or use of FTA card for one drop blood.

Step 3

Report Delivery

Sample is processed and analyzed using NGS technology. Results are reviewed and reported by genetic specialists.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Clinical history review and genetic counseling session to assess indications and draw a family pedigree chart.
2
During the Test:Blood sample collection and DNA extraction for NGS analysis.
3
After the Test:Results interpretation by genetic specialists, followed by counseling and management recommendations.

About This Test

Who Should Get This Test

To diagnose C15orf41 gene mutations causing congenital dyserythropoietic anemia type 1B through next-generation sequencing, enabling accurate identification and management of this rare genetic disorder.

How to Prepare

  • Provide a blood sample or extracted DNA as per test requirements
  • Use FTA card for one drop blood if applicable
  • Ensure proper labeling and handling of the sample

Doctor's Notes

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

"Genetic testing for C15orf41 mutations is crucial for accurate diagnosis and personalized care in congenital dyserythropoietic anemia, aiding in management and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Rejection Criteria:
  • Hemolyzed or contaminated sample
  • Insufficient sample volume
  • Improperly labeled or stored sample

Understanding Your Results

Test results indicate the presence or absence of pathogenic mutations in the C15orf41 gene associated with congenital dyserythropoietic anemia type 1B.
📊

Pathogenic variant detected

Confirms diagnosis of C15orf41-related dyserythropoietic anemia. Genetic counseling is recommended for management and family planning.

📊

No pathogenic variant detected

Does not rule out other causes of anemia. Clinical correlation and further testing may be advised.

⚠️ When to Consult a Doctor:

If symptoms of anemia persist, if there is a family history of genetic blood disorders, or if test results indicate a pathogenic variant.

Limitations

  • ⚠May not detect all types of genetic mutations, such as large deletions or rearrangements
  • ⚠Results require interpretation by a genetic counselor or healthcare professional
  • ⚠Does not rule out other causes of anemia or genetic disorders

Risks & Considerations

  • ●Minor bruising or discomfort at the blood collection site
  • ●Rare risk of infection or hematoma

Frequently Asked Questions

What is C15orf41 Gene Dyserythropoietic Anemia, Congenital, Type 1B?
It is a rare genetic disorder caused by mutations in the C15orf41 gene, leading to defective red blood cell production and anemia.
What causes this disorder?
Mutations in the C15orf41 gene, which encodes the codanin-1 protein, disrupt normal red blood cell development.
What are the common symptoms?
Symptoms include fatigue, weakness, pale skin, shortness of breath, and irregular heartbeat, ranging from mild to severe.
How is the disorder diagnosed?
Diagnosis is confirmed through genetic testing, specifically NGS sequencing of the C15orf41 gene to identify mutations.
What does the NGS Genetic Test involve?
The test analyzes a patient's DNA sequence using next-generation sequencing to detect mutations in the C15orf41 gene.
What is the cost of the test at DNA Labs India?
The cost is INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the test results mean?
Results indicate whether pathogenic mutations in the C15orf41 gene are detected, confirming or ruling out the disorder.
Is genetic counseling recommended?
Yes, genetic counseling before and after testing is advised to understand results, inheritance patterns, and implications.
Can this test be used for carrier testing?
Yes, it can identify carriers of C15orf41 mutations, useful for family planning and risk assessment.
What are the next steps after diagnosis?
Consult a healthcare provider for management options, monitoring, and potential treatments, along with genetic counseling for family support.
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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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.

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