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Bardet-Biedl Syndrome (BBS) Panel
₹ 19400
Bardet-Biedl Syndrome (BBS) Panel by NGS Test
₹ 19400 ₹ 19400

Bardet-Biedl Syndrome (BBS) Panel by NGS Test

Sample Type 51+ booked in last 3 days
Precaution
Sample Type
Swab
Precaution
Fasting
Yes
Precaution
Report
Within 4 Weeks

Bardet-Biedl Syndrome (BBS) Panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Bardet-Biedl syndrome gene panel
Fasting
Fasting not required
Reporting Time
After 4 weeks
Purpose
To detect genetic mutations associated with Bardet-Biedl syndrome and related ciliopathies

What is the Bardet-Biedl Syndrome (BBS) Panel by NGS Test?

The Bardet-Biedl Syndrome Panel by NGS Test is a genetic blood test used to diagnose Bardet-Biedl syndrome, a rare inherited condition that affects multiple systems in the body. It is classified as a ciliopathy, meaning it is caused by defects in tiny hair-like structures called cilia that play a key role in cell signalling and organ function.

This test analyses a group of genes known to cause Bardet-Biedl syndrome using next generation sequencing technology. Identifying the underlying genetic change helps confirm the diagnosis, understand the disease course, and support long-term medical care. The test requires a blood sample collected in an EDTA tube.

What Does the Bardet-Biedl Syndrome (BBS) Panel by NGS Test Measure?

This genetic test looks for disease-causing changes in genes linked to Bardet-Biedl syndrome:

  • Detects pathogenic variants responsible for Bardet-Biedl syndrome
  • Helps differentiate BBS from other inherited ciliopathies
  • Supports early diagnosis in children and adults with multisystem symptoms
  • Aids genetic counselling and family screening
  • Guides management of vision, metabolic, kidney, and developmental complications

Bardet-Biedl Syndrome (BBS) Panel by NGS Test: Who Needs It and Why It’s Done

What Symptoms May Call for a Bardet-Biedl Syndrome (BBS) Panel by NGS Test?

Doctors may recommend this test if you or your child show features suggestive of Bardet-Biedl syndrome, such as:

  • Progressive vision loss or night blindness due to retinal degeneration
  • Early onset obesity that is difficult to control
  • Extra fingers or toes present at birth
  • Learning difficulties or delayed development
  • Kidney abnormalities detected on imaging or blood tests
  • Hormonal or reproductive issues

Who Should Get a Bardet-Biedl Syndrome (BBS) Panel by NGS Test?

This test may be advised for:

  • Children or adults with clinical features of Bardet-Biedl syndrome
  • Individuals with unexplained retinal dystrophy and obesity
  • Patients with kidney disease and congenital anomalies
  • Families with a known history of Bardet-Biedl syndrome
  • Couples seeking genetic counselling before or during pregnancy

Why is the Bardet-Biedl Syndrome (BBS) Panel by NGS Test Done?

The test helps confirm a genetic diagnosis of Bardet-Biedl syndrome, enabling personalised medical care, appropriate monitoring, and informed family planning decisions.

Bardet-Biedl Syndrome (BBS) Panel by NGS Test Booking & Reports – Metropolis Healthcare

How to Book the Bardet-Biedl Syndrome (BBS) Panel by NGS Test and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Bardet-Biedl Syndrome (BBS) Panel by NGS Test, choose a convenient time slot, and provide your address for a blood test at home. You may also visit a nearby Metropolis Lab if you prefer in person sample collection.
  2. Safe Home Sample Collection
    Trained phlebotomists collect your blood sample while strictly following safety and hygiene protocols.
  3. Sample Tracking Updates
    You receive updates at every stage, from sample collection to testing, through the Metropolis Healthcare platform.
  4. Accurate Laboratory Testing
    Your sample is processed at NABL and CAP accredited laboratories using advanced molecular diagnostic technology.
  5. Quick and Easy Reports
    Your reports are shared via email, WhatsApp, or can be downloaded from the Metropolis Healthcare website or app.

Is Home Sample Collection for Bardet-Biedl Syndrome (BBS) Panel by NGS Test Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Bardet-Biedl Syndrome (BBS) Panel by NGS Test. This service saves you time, reduces the need for travel, and ensures professional sample handling while maintaining strict quality standards.

In How Much Time Will I Get the Bardet-Biedl Syndrome (BBS) Panel by NGS Test Report?

Reports are usually available after 4 weeks once the sample reaches the lab.
Note: Reporting time may vary based on your location.

Where Can I See or Get Bardet-Biedl Syndrome (BBS) Panel by NGS Test Results?

You can access your test reports through the Metropolis Healthcare website or mobile app using your login credentials. Reports are also sent via email or WhatsApp, and you may collect a physical copy from the Metropolis Lab if required.

Interpreting Bardet-Biedl Syndrome (BBS) Panel by NGS Test Results

What Your Bardet-Biedl Syndrome (BBS) Panel Results May Indicate

Parameter

Expected Finding

Pathogenic Variant Detected May Indicate

No Variant Detected May Indicate

Bardet-Biedl syndrome related genes

No disease causing variant detected

Confirmed genetic Bardet-Biedl syndrome or related ciliopathy

Symptoms may be due to non genetic causes or variants not detected by this panel

 

Understanding Abnormal Bardet-Biedl Syndrome (BBS) Panel Results by Gene Group

Gene Group

What a Pathogenic Variant May Indicate

BBS1, BBS10, BBS2, BBS7, TTC8

Classic Bardet-Biedl syndrome with retinal and metabolic involvement

MKKS, TRIM32, BBIP1

Overlapping ciliopathy features with skeletal or developmental findings

CEP290, TMEM67, MKS1

Severe ciliopathies with kidney and neurological involvement

ARL6, LZTFL1, WDPCP

Defects in ciliary transport and signalling pathways

 

How Should You Prepare for a Bardet-Biedl Syndrome (BBS) Panel by NGS Test?

This genetic test requires minimal preparation from your side:

  • No fasting required: You can eat and drink normally before sample collection
  • Normal hydration: Maintain your usual fluid intake
  • Medication disclosure: Inform your doctor about any medicines or supplements you are taking
  • Share clinical history: Provide relevant medical and family history as advised
  • Consent and documentation: Ensure the test requisition form and genetic history details are completed

How Is a Bardet-Biedl Syndrome (BBS) Panel by NGS Test Done? (Step-by-Step Procedure)

The test is performed using a standard blood collection process:

  • Preparation: A tourniquet is tied around your arm to make veins more visible
  • Cleaning: The puncture site is cleaned with antiseptic
  • Sample Collection: A sterile needle is used to draw about 3 to 5 ml of blood into an EDTA vacutainer
  • Completion: The needle is removed, and a bandage is applied
  • Processing: The sample undergoes next generation sequencing to analyse genes linked to Bardet-Biedl syndrome

Conditions That May Affect Bardet-Biedl Syndrome (BBS) Panel by NGS Test Accuracy

Certain patient related factors may influence test interpretation:

  • Recent blood transfusion, which may affect genetic analysis
  • Incomplete or inaccurate family history details
  • Presence of mosaic genetic changes that may require clinical correlation

Diseases That the Bardet-Biedl Syndrome (BBS) Panel by NGS Test Can Help Detect

  • Bardet-Biedl syndrome
  • Inherited ciliopathies
  • Genetic retinal dystrophies associated with obesity
  • Syndromic kidney and metabolic disorders

References

  1. Forsythe E., Beales P.L. (2013). Bardet-Biedl syndrome. European Journal of Human Genetics, 21(1), 8–13. PMID: 22713813
  2. Suspitsin E.N., Imyanitov E.N. (2016). Bardet-Biedl syndrome. Molecular Syndromology, 7(2), 62–71. PMID: 27408788
  3. Katsanis N., Lupski J.R., Beales P.L. (2001). Exploring the molecular basis of Bardet-Biedl syndrome. Human Molecular Genetics, 10(20), 2293–2299. PMID: 11590127

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Morning given the samples in Ayanavaram branch got the report by 12.30pm it's fast and efficient delivery by mail and want to tell about the staff they are very professional and friendly definitely I will recommend my friends and family to metropolis labs

Prabhu Gopalakrishnan. 5

The Home Service was excellent. Medical Technician took samples at 7:00am and returned at 9:30 after breakfast to take further samples. The results were sent by email at 6pm. The whole experience was excellent, professional and well organised. Will certainly recommend the home service for convenience

Chris Bessell 5

Excellent service - I was able to request services late at night (9pm) and the technician was at my door at 7:30am the next morning. The services were highly affordable and convenient. I live in the US and the US could learn a lot from Metropolis!!!

Sharmila Vaishnav. 5

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

Very good staff, excellent execution of samples, timely results even before promised time. professional and well organised. Will certainly recommend the home service for convenience

Ishwarakrishnan. 4

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