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BLM Gene Bloom syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

BLM Gene Bloom syndrome NGS Genetic Test

Short Name: Bloom Syndrome Genetic Test

Also known as: Bloom Syndrome DNA Test, BLM Gene Mutation Analysis, Bloom Syndrome NGS Test

BLM Gene Bloom 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 3 to 4 weeks. Free home collection in 300+ cities across India.

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 the BLM Gene Bloom Syndrome NGS Genetic Test is to identify mutations in the BLM gene that cause Bloom syndrome. This test confirms diagnosis, assesses risk for complications such as cancer, and informs family planning and management decisions.

Test Code
1900
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

Genetic counseling session to draw a pedigree chart. No specific preparation required; fasting is not needed.

Method: Venipuncture or provided FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or using provided FTA card by trained phlebotomist.

Step 3

Report Delivery

Sample transported to the laboratory for NGS analysis. Results available in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss the test, symptoms, and family history. No fasting or special preparation is required.
2
During the Test:Sample collection takes about 15 minutes. The test uses NGS technology to analyze the BLM gene.
3
After the Test:Monitor for any post-collection symptoms like minor bruising. Await results and follow up with genetic counselor for interpretation.

About This Test

Who Should Get This Test

The purpose of the BLM Gene Bloom Syndrome NGS Genetic Test is to identify mutations in the BLM gene that cause Bloom syndrome. This test confirms diagnosis, assesses risk for complications such as cancer, and informs family planning and management decisions.

How to Prepare

  • Ensure proper patient identification and consent
  • Use sterile equipment for blood draw
  • Label sample correctly with patient details
  • Store sample at ambient room temperature if using FTA card

Doctor's Notes

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

"As a referring specialist, I recommend the BLM Gene NGS Genetic Test for patients with suspected Bloom syndrome or family history to guide diagnosis, management, and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood
ContainerEDTA tube for blood or FTA card
Collection MethodVenipuncture or provided FTA card

Sample Stability

Blood: Stable for 24 hours at room temperature in EDTA tube
Extracted DNA: Stable for several months at -20°C
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Incorrect sample type or container
  • Insufficient sample volume
  • Mislabelled or unlabeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the BLM gene. A geneticist should interpret results in clinical context.
Normal: No pathogenic variants detected, indicating low risk for Bloom syndrome
Abnormal: Pathogenic mutation detected, confirming Bloom syndrome diagnosis
Uncertain: Variant of unknown significance found, requiring further testing or family studies
⚠️ When to Consult a Doctor:

If symptoms such as short stature, sun-sensitive rash, recurrent infections persist, or if there is a family history of genetic disorders, consult a healthcare professional for genetic testing and counseling.

Limitations

  • ⚠May not detect all types of mutations, including large deletions or intronic variants
  • ⚠Variants of unknown significance may be identified
  • ⚠Test results require interpretation by a qualified geneticist

Risks & Considerations

  • ●Minor pain or bruising at blood draw site
  • ●Very low risk of infection
  • ●Potential emotional impact of test results

Interfering Factors

  • ●Poor sample quality
  • ●Insufficient DNA quantity
  • ●Contaminated sample

Compare With Similar Tests

TestBLM Gene Bloom syndrome NGS Genetic TestChromosomal Breakage AnalysisFANCM Gene Test for Fanconi AnemiaBRCA1/2 Genetic Test
ComparisonBLM Gene Bloom syndrome NGS Genetic Test

Frequently Asked Questions

What is Bloom syndrome?
Bloom syndrome is a rare genetic disorder caused by mutations in the BLM gene, leading to short stature, sun-sensitive skin changes, and increased cancer risk.
What causes Bloom syndrome?
Bloom syndrome is caused by mutations in the BLM gene, inherited in an autosomal recessive pattern, affecting DNA repair mechanisms.
What are the symptoms of Bloom syndrome?
Common symptoms include short stature, sun-sensitive facial rash, recurrent infections, fertility problems, and a high risk of cancer.
How is Bloom syndrome diagnosed?
Diagnosis involves clinical evaluation and confirmed by genetic testing, such as the BLM Gene NGS Genetic Test, to detect mutations.
What is the BLM Gene NGS Genetic Test?
It is a genetic test using Next Generation Sequencing to analyze the BLM gene for mutations associated with Bloom syndrome.
How much does the test cost?
The BLM Gene Bloom Syndrome NGS Genetic Test costs INR 20000 at DNA Labs India, including home collection and counseling.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort or bruising, but is generally not painful.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across India.
What should I do if the test is positive?
If positive, consult a geneticist or healthcare professional for management, cancer screening, and genetic counseling for family planning.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after the test to understand implications, results, and for informed decision-making.
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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