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UBR1 Gene Johanson Blizzard syndrome NGS Genetic Test

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UBR1 Gene Johanson Blizzard syndrome NGS Genetic Test

Short Name: Johanson Blizzard Syndrome NGS Test

Also known as: JBS, Johanson-Blizzard Syndrome

UBR1 Gene Johanson Blizzard 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.

Next-Generation Sequencing (NGS)🏠 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 detect pathogenic mutations in the UBR1 gene to confirm a diagnosis of Johanson Blizzard Syndrome, assess carrier status, and support genetic counseling for affected families.

Test Code
2607
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 special preparation required. Provide clinical history and family pedigree for genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture or use an FTA card for one-drop blood.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store samples as instructed for stability.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. Genetic counseling session recommended.
2
During the Test:The sample undergoes NGS analysis in the laboratory to sequence the UBR1 gene.
3
After the Test:Results are reviewed by geneticists, and a detailed report is generated for the patient and physician.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic mutations in the UBR1 gene to confirm a diagnosis of Johanson Blizzard Syndrome, assess carrier status, and support genetic counseling for affected families.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly
  • Transport at ambient temperature or as specified

Doctor's Notes

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

"Genetic testing for UBR1 gene mutations is essential for early diagnosis and management of Johanson Blizzard Syndrome, especially in families with a history of the disorder."

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
Collection MethodVenipuncture

Sample Stability

Blood: 2-8°C for up to 24 hours
Extracted DNA: -20°C for long-term storage
FTA Card: Room temperature for several weeks
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improper labeling or storage

Understanding Your Results

Results indicate the presence or absence of mutations in the UBR1 gene. Interpretation should be done by a geneticist in conjunction with clinical findings.
📊

Positive

Pathogenic variant detected, confirming Johanson Blizzard Syndrome diagnosis.

📊

Negative

No pathogenic variant detected; clinical correlation recommended.

📊

Variant of Uncertain Significance

Genetic variant identified but clinical significance unknown; further testing may be needed.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of Johanson Blizzard Syndrome are present, for genetic counseling, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require genetic counseling
  • ⚠Not a substitute for clinical evaluation

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestUBR1 Gene Johanson Blizzard syndrome NGS Genetic TestPancreatic Function TestHearing Test (Audiometry)Whole Exome SequencingTargeted Gene Panel for Rare Diseases
ComparisonUBR1 Gene Johanson Blizzard syndrome NGS Genetic TestAssesses pancreatic insufficiency but does not identify genetic cause.Evaluates hearing loss but not specific to JBS genetics.Broader genetic analysis but more expensive and time-consuming.May include UBR1 but less focused than this specific test.

Frequently Asked Questions

What is Johanson Blizzard Syndrome?
Johanson Blizzard Syndrome is a rare genetic disorder caused by mutations in the UBR1 gene, affecting multiple body systems including the pancreas, teeth, and hearing.
What does the UBR1 Gene NGS Genetic Test involve?
The test uses next-generation sequencing to analyze the UBR1 gene for mutations, typically from a blood or DNA sample.
Who should consider this test?
Individuals with symptoms like failure to thrive, developmental delay, or a family history of Johanson Blizzard Syndrome should consider testing.
How accurate is the NGS genetic test?
NGS technology provides high accuracy for detecting mutations, but results should be interpreted by a geneticist.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, including sample collection and reporting.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic mutations are present in the UBR1 gene, confirming or ruling out Johanson Blizzard Syndrome.
Is genetic counseling included?
Yes, genetic counseling is recommended and can be arranged through DNA Labs India.
Are there any risks to the test?
The test involves minimal risks from blood draw, such as bruising, but genetic results may have emotional implications.
Can this test be used for prenatal diagnosis?
Consult a geneticist for prenatal testing options, as this test is primarily for postnatal diagnosis.
How do I book the test?
You can book online through DNA Labs India's website or contact their customer service for assistance.
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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