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CCDC28B Gene Bardet-Biedl syndrome, modifier of, CCDC28B related NGS Genetic Test

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CCDC28B Gene Bardet-Biedl syndrome, modifier of, CCDC28B related NGS Genetic Test

Short Name: CCDC28B Gene Test

Also known as: CCDC28B Gene Analysis, Bardet-Biedl Syndrome Modifier Test, BBS Genetic Test

CCDC28B Gene Bardet-Biedl syndrome, modifier of, CCDC28B related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the CCDC28B gene test is to identify genetic variations in the CCDC28B gene that modify Bardet-Biedl Syndrome, aiding in diagnosis, prognosis, and management decisions for affected individuals and families.

Test Code
2572
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 Technology
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree information.

Method: Venipuncture or blood drop

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store sample as per instructions.

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:Blood sample is drawn and sent to the lab for NGS analysis.
3
After the Test:Results are reviewed by a geneticist. Follow-up counseling may be advised.

About This Test

Who Should Get This Test

The purpose of the CCDC28B gene test is to identify genetic variations in the CCDC28B gene that modify Bardet-Biedl Syndrome, aiding in diagnosis, prognosis, and management decisions for affected individuals and families.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Label samples correctly with patient details

Doctor's Notes

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

"This test is essential for families with a history of Bardet-Biedl Syndrome to assess genetic risks and guide management."

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 or FTA card
Collection MethodVenipuncture or blood drop

Sample Stability

Blood: 48 hours at room temperature
Extracted DNA: Stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of variations in the CCDC28B gene. Interpretation should be done in the context of clinical symptoms and family history.
📊

No pathogenic variants

No modifier variants identified; BBS may be due to other genes.

📊

Pathogenic variant detected

CCDC28B variant may modify BBS severity; genetic counseling recommended.

📊

Variant of uncertain significance (VUS)

Further testing and clinical correlation needed.

⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if results show pathogenic variants or if symptoms persist despite negative results.

Limitations

  • ⚠May not detect all genetic variants due to technical limitations
  • ⚠Results require interpretation by a genetic counselor or specialist
  • ⚠Does not rule out other genetic causes of BBS

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

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

Compare With Similar Tests

TestCCDC28B Gene Bardet-Biedl syndrome, modifier of, CCDC28B related NGS Genetic TestBBS1 Gene TestBBS2 Gene TestWhole Exome SequencingTargeted Gene Panel
ComparisonCCDC28B Gene Bardet-Biedl syndrome, modifier of, CCDC28B related NGS Genetic Test

Frequently Asked Questions

What is the CCDC28B gene test?
It is an NGS genetic test to identify variations in the CCDC28B gene that modify Bardet-Biedl Syndrome.
Who should take this test?
Individuals with symptoms of BBS or a family history of the syndrome.
What is the cost of the test in India?
The test costs INR 20000, with home collection available.
How is the sample collected?
Via blood draw or blood drop on an FTA card.
Is fasting required?
No, fasting is not required for this test.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What does a positive result mean?
It indicates a pathogenic variant in CCDC28B that may modify BBS severity.
Can this test diagnose BBS?
It helps confirm diagnosis when combined with clinical evaluation, but BBS is often diagnosed via other genes.
Is genetic counseling included?
Yes, a genetic counseling session is recommended before and after testing.
Are there any risks?
Risks are minimal, mainly related to blood draw.
Is the test covered by insurance?
Coverage depends on the insurance provider; check with your insurer.
Where is home collection available?
Home collection is available in numerous cities across India, including Mumbai, Delhi, Bangalore, and more.
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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