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Meckel Gruber syndrome gene panel
₹ 19400
Meckel Gruber Syndrome Gene Panel
₹ 19400 ₹ 19400

Meckel Gruber Syndrome Gene Panel

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

Meckel Gruber syndrome gene panel Price

₹ 19400

Brief Details

Preparation
No special preparation required
Also Known As
Meckel Gruber Syndrome Gene Panel by NGS
Fasting
Fasting not required
Reporting Time
After 4 weeks
Purpose
To detect genetic mutations causing Meckel Gruber syndrome and support diagnosis, prenatal evaluation, and family risk assessment

What is the Meckel Gruber Syndrome Gene Panel?

The Meckel Gruber Syndrome Gene Panel is a genetic blood test used to identify inherited mutations responsible for Meckel Gruber syndrome, a rare and severe congenital condition. This syndrome affects early foetal development and is typically associated with abnormalities of the brain, kidneys, and limbs.

The test analyses multiple genes involved in ciliary function and embryonic development using Next Generation Sequencing technology. It requires an EDTA blood sample and helps doctors confirm a genetic diagnosis, assess recurrence risk, and support informed reproductive decision making.

What Does the Meckel Gruber Syndrome Gene Panel Measure?

This genetic test evaluates changes in genes linked to early organ development and cellular signalling:

  • Detection of disease causing variants associated with Meckel Gruber syndrome
  • Differentiation of Meckel Gruber syndrome from other syndromic or ciliopathy related disorders
  • Identification of inherited risk in families with previous affected pregnancies
  • Support for prenatal diagnosis and reproductive planning
  • Guidance for genetic counselling and family screening

Meckel Gruber Syndrome Gene Panel: Who Needs It and Why It’s Done

What Symptoms May Call for a Meckel Gruber Syndrome Gene Panel?

Doctors may recommend this test when severe congenital anomalies are identified, such as:

  • Abnormal findings on prenatal ultrasound
  • Neural tube defects including encephalocele
  • Enlarged or cystic kidneys detected before birth
  • Extra fingers or toes
  • Multiple congenital malformations suggestive of a syndromic condition

Who Should Get a Meckel Gruber Syndrome Gene Panel?

  • Couples with a previous pregnancy affected by Meckel Gruber syndrome
  • Families with a known history of Meckel Gruber syndrome
  • Pregnancies showing characteristic anomalies on prenatal imaging
  • Individuals seeking genetic risk assessment before future pregnancies
  • Parents undergoing evaluation after foetal loss due to congenital anomalies

Why is a Meckel Gruber Syndrome Gene Panel Done?

The test helps confirm the genetic cause of Meckel Gruber syndrome, allowing accurate diagnosis, recurrence risk assessment, and informed prenatal and reproductive decisions.

Importance of the Meckel Gruber Syndrome Gene Panel

Meckel Gruber syndrome is a life limiting condition, and early genetic confirmation plays a crucial role in counselling and care planning. This gene panel enables precise identification of the underlying genetic defect, helping families understand recurrence risk, explore prenatal testing options in future pregnancies, and make informed reproductive choices with medical guidance.

Meckel Gruber Syndrome Gene Panel Booking & Reports – Metropolis Healthcare

How to Book the Meckel Gruber Syndrome Gene Panel and Get Your Reports?

  1. Simple Online Booking
    Booking can be done through the Metropolis Healthcare App or website. Select the Meckel Gruber Syndrome Gene Panel, 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 Meckel Gruber Syndrome Gene Panel Available Near You?

Yes, Metropolis Healthcare offers home sample collection for the Meckel Gruber Syndrome Gene Panel. This service reduces the need for travel, ensures professional sample handling, and supports a comfortable testing experience.

How Long Does It Take to Get a Meckel Gruber Syndrome Gene Panel 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 Meckel Gruber Syndrome Gene Panel Results?

  1. Metropolis Healthcare website or mobile app
    You can access your test results through the Metropolis Healthcare website or mobile app using your login credentials.
  2. Email or WhatsApp
    Reports are also shared via email or WhatsApp.
  3. Physical copy from the lab
    You may collect a physical copy directly from the Metropolis Lab if required.

Interpreting Meckel Gruber Syndrome Gene Panel Results

What Your Meckel Gruber Syndrome Gene Panel Results May Indicate

Parameter Expected Finding Pathogenic Variant Detected May Indicate No Variant Detected May Indicate
Meckel Gruber syndrome related genes No disease causing variant detected Meckel Gruber syndrome due to defective ciliary function An alternative genetic or non genetic cause may be responsible

Understanding Abnormal Meckel Gruber Syndrome Gene Panel Test Results

Gene Group What a Pathogenic Variant May Indicate
MKS1, TMEM67, CC2D2A Classic Meckel Gruber syndrome affecting embryonic development
CEP290, RPGRIP1L Ciliopathy related disorders with brain and kidney involvement
TCTN and TMEM genes Disruption of signalling pathways essential for organ formation

How Should You Prepare for a Meckel Gruber Syndrome Gene Panel?

This genetic test requires minimal preparation. Please keep the following points in mind:

  • No fasting required: You can eat and drink normally unless advised otherwise by your doctor
  • Normal hydration: Continue your usual fluid intake
  • Medication information: Inform your doctor about all medicines or supplements you are taking
  • Clinical history: Share relevant pregnancy and family history to support accurate interpretation
  • Consent and forms: Ensure the test requisition form and genetic history details are completed

How Is a Meckel Gruber Syndrome Gene Panel Done? (Step-by-Step Procedure)

The test is performed using a simple 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 is analysed using Next Generation Sequencing to identify gene mutations associated with Meckel Gruber syndrome.

Conditions That May Affect Meckel Gruber Syndrome Gene Panel Accuracy

Certain patient related factors may influence test interpretation:

  • Recent blood transfusion may affect genetic analysis
  • Incomplete or incorrect clinical or pregnancy history can limit interpretation
  • Mosaic genetic changes may be harder to detect in some cases
  • Variants of uncertain significance may require further family testing

Diseases That a Meckel Gruber Syndrome Gene Panel Can Help Detect

  • Meckel Gruber syndrome
  • Ciliopathy related syndromic disorders
  • Severe congenital malformation syndromes

References

  1. Salonen R., Paavola P. (1998). Meckel syndrome. Journal of Medical Genetics, 35(6), 497–501. PMID: 9662526
  2. Kyttälä M., Tallila J., Salonen R., et al. (2006). MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nature Genetics, 38(2), 155–157. PMID: 16415887
  3. Dawe H.R., Smith U.M., Cullinane A.R., et al. (2007). The Meckel Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Human Molecular Genetics, 16(2), 173–186. PMID: 17185388
  4. Baala L., Romano S., Khaddour R., et al. (2007). The Meckel Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. American Journal of Human Genetics, 80(1), 186–194. PMID: 17160902
  5. Brugmann S.A., Cordero D.R., Helms J.A. (2010). Craniofacial ciliopathies: A new classification for craniofacial disorders. American Journal of Medical Genetics Part A, 152A(12), 2995–3006. PMID: 21077291

Frequently asked questions

Find quick answers to the most common questions about health tests, bookings, and reports.

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Ratings & Reviews

We're satisfying our customers every day since 1980.

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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  • Real-time tracking of phlebotomist arrival and report generation
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  • Continuous monitoring of turnaround times to ensure accuracy and speed
  • Dedicated support team to resolve any delays or queries quickly

Why Metropolis Healthcare?

Metropolis has been present for over 40 years in the market.

Metropolis has a team of 200 senior pathologists and over 2000 technicians delivering diagnostic solutions in the areas of routine, semi specialty and super specialty domains like Oncology, Neurology, Gynaecology, Nephrology and many more.

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