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BRIP1 Gene Fanconi anemia type J NGS Genetic Test

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BRIP1 Gene Fanconi anemia type J NGS Genetic Test

Short Name: BRIP1 Gene Fanconi Anemia Type J Test

Also known as: Fanconi Anemia Type J, BRIP1 Gene Mutation Test, BRIP1-associated Fanconi Anemia

BRIP1 Gene Fanconi anemia type J 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 3 to 4 Weeks. 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 test is to confirm a diagnosis of Fanconi Anemia Type J by identifying mutations in the BRIP1 gene. It helps in assessing the risk of bone marrow failure and cancer, guiding surveillance and treatment strategies, and providing genetic counseling for family planning.

Test Code
1983
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required, but genetic counseling is recommended prior to testing.

Method: Venipuncture or FTA Card Spotting

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card spotting by a trained phlebotomist.

Step 3

Report Delivery

Sample is processed and analyzed in the laboratory; results are available in 3-4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss implications, risks, and benefits of testing. Provide clinical and family history.
2
During the Test:Non-invasive blood sample collection. Minimal discomfort during venipuncture.
3
After the Test:Monitor for any post-collection side effects, which are rare. Await results and schedule follow-up counseling.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a diagnosis of Fanconi Anemia Type J by identifying mutations in the BRIP1 gene. It helps in assessing the risk of bone marrow failure and cancer, guiding surveillance and treatment strategies, and providing genetic counseling for family planning.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection tubes or FTA cards
  • Label samples accurately with patient details
  • Transport samples at ambient room temperature

Doctor's Notes

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

"This test is crucial for early diagnosis of Fanconi Anemia Type J, especially in families with a history of bone marrow failure or cancer. Consult a genetic counselor for personalized advice."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL blood or equivalent
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 several days at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the BRIP1 gene. A positive result confirms Fanconi Anemia Type J, while a negative result suggests no detectable mutation, but does not rule out other genetic causes.
Pathogenic variant detected: Diagnosis of Fanconi Anemia Type J is confirmed
No pathogenic variant detected: Unlikely to have Fanconi Anemia Type J due to BRIP1 mutations
Variant of uncertain significance (VUS): Further testing or family studies may be needed
Consult with a genetic counselor for personalized interpretation and next steps
⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if symptoms of Fanconi anemia are present, if there is a family history of the disorder, or if test results are abnormal for guidance on management and treatment.

Limitations

  • ⚠May not detect all types of genetic variants, such as large deletions or duplications
  • ⚠Results require interpretation by a qualified geneticist or healthcare professional
  • ⚠Does not assess for other Fanconi anemia complementation groups or genes

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results
  • ●Risk of misinterpretation without professional guidance

Interfering Factors

  • ●Degraded or insufficient DNA sample
  • ●Contamination during sample collection or processing
  • ●Technical errors in NGS sequencing or analysis

Compare With Similar Tests

TestBRIP1 Gene Fanconi anemia type J NGS Genetic TestFANCA Gene NGS TestFANCG Gene NGS TestComprehensive Fanconi Anemia Panel
ComparisonBRIP1 Gene Fanconi anemia type J NGS Genetic Test

Frequently Asked Questions

What is the BRIP1 Gene Fanconi Anemia Type J NGS Genetic Test?
This test uses Next-Generation Sequencing to detect mutations in the BRIP1 gene, which cause Fanconi Anemia Type J, a rare genetic disorder affecting bone marrow and increasing cancer risk.
Who should consider this test?
Individuals with symptoms of Fanconi anemia, a family history of the disorder, unexplained bone marrow failure, or those undergoing genetic counseling for cancer predisposition.
What is the cost of the test in India?
The test costs INR 20,000 at DNA Labs India, which includes sample collection, analysis, and report delivery.
How is the sample collected?
A blood sample is collected via venipuncture or using an FTA card. Free home collection is available in many cities across India.
Is fasting required before the test?
No, fasting is not required. You can eat and drink normally before sample collection.
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 confirms a diagnosis of Fanconi Anemia Type J due to a pathogenic BRIP1 gene mutation. It indicates increased risk of bone marrow failure and cancer, requiring medical supervision.
What if the test is negative?
A negative result means no pathogenic BRIP1 mutation was detected. However, it does not rule out other genetic causes of Fanconi anemia or related conditions.
Is genetic counseling provided?
Yes, DNA Labs India offers genetic counseling sessions to draw pedigree charts, interpret results, and provide guidance on management and family planning.
Can this test be done for children?
Yes, the test can be performed on individuals of all ages, including children, with appropriate consent and sample collection methods.
Is the test covered by insurance?
Coverage depends on your insurance policy. It is not typically covered under government schemes like PMJAY or CGHS, but private insurance may offer partial coverage. Check with your provider.
How can I book the test?
You can book the test online through DNA Labs India's website or by calling our helpline. Free home sample collection is available for online bookings.
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.

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