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MGP Gene Keutel syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MGP Gene Keutel syndrome NGS Genetic Test

Short Name: MGP Gene Keutel Syndrome NGS

Also known as: Keutel Syndrome NGS Panel, MGP Gene Sequencing, Matrix Gla Protein Gene Test

MGP Gene Keutel 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 Reports are typically available within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this NGS genetic test is to confirm a clinical diagnosis of Keutel syndrome by identifying pathogenic mutations in the MGP gene. It aids in differentiating Keutel syndrome from other conditions with similar features, enables carrier testing for family members, and provides essential information for genetic counseling and reproductive planning. The test also helps in understanding the disease prognosis and guiding surveillance for associated complications such as hearing loss and respiratory issues.

Test Code
5811
CPT Code
81406
ICD Code
Q78.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks from the date of sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. Please provide clinical history and any prior genetic test results. A genetic counseling session will be arranged to draw a pedigree chart.

Method: Venipuncture or Finger-prick

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist. For FTA card, a simple finger-prick is sufficient.

Step 3

Report Delivery

No special precautions. You may resume normal activities immediately.

Timeline: Reports are typically available within 3 to 4 weeks from the date of sample receipt.

Patient Instructions

1
Before the Test:No special preparation required. However, a genetic counseling session is mandatory to discuss the implications of the test and obtain informed consent.
2
During the Test:The test involves a simple blood draw or finger-prick. The sample is then sent to the laboratory for NGS analysis.
3
After the Test:You will receive the report via email/WhatsApp within 3-4 weeks. A genetic counselor will explain the results and discuss next steps.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to confirm a clinical diagnosis of Keutel syndrome by identifying pathogenic mutations in the MGP gene. It aids in differentiating Keutel syndrome from other conditions with similar features, enables carrier testing for family members, and provides essential information for genetic counseling and reproductive planning. The test also helps in understanding the disease prognosis and guiding surveillance for associated complications such as hearing loss and respiratory issues.

How to Prepare

  • For blood: Use EDTA vacutainer, fill to indicated mark, mix gently
  • For FTA card: Apply one drop of blood onto each circle, air dry for 30 minutes
  • Label sample with patient name, date, and unique ID
  • Transport at ambient temperature (15-30°C) within 24 hours

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Keutel syndrome is a rare autosomal recessive disorder. Early genetic confirmation is crucial for management of respiratory and hearing complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Finger-prick

Sample Stability

Whole blood (EDTA)24 hours
Whole blood (EDTA)72 hours
Extracted DNA6 months
FTA card1 year
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling or missing requisition form
  • Sample received after prolonged transit without proper storage

Understanding Your Results

The interpretation of the MGP gene NGS test is based on the presence or absence of pathogenic variants. A positive result confirms the diagnosis of Keutel syndrome, while a negative result reduces the likelihood but does not entirely exclude it. Variants of uncertain significance may require further family studies.
📊

Pathogenic variant detected (homozygous or compound heterozygous)

Confirms diagnosis of Keutel syndrome. Autosomal recessive inheritance. Genetic counseling recommended for family planning.

📊

Single pathogenic variant detected (heterozygous)

Carrier status. Individual is unaffected but at risk of having affected offspring if partner is also a carrier.

📊

No pathogenic variants detected

No evidence of MGP-related Keutel syndrome. Consider other genetic causes or alternative diagnoses.

📊

Variant of uncertain significance (VUS)

Insufficient evidence to classify. Additional testing of family members may help clarify pathogenicity.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or pediatrician if your child shows symptoms such as abnormal cartilage calcification, recurrent respiratory infections, hearing loss, or developmental delay. Genetic testing is recommended for early diagnosis and management.

Limitations

  • NGS may not detect large deletions/duplications or deep intronic variants
  • Variants of uncertain significance (VUS) may require further analysis
  • Test does not assess non-coding regulatory regions
  • Negative result does not exclude all genetic causes of similar phenotype

Risks & Considerations

  • Minimal risk of bruising or infection at the blood draw site
  • Psychological impact of receiving a genetic diagnosis
  • Potential for uncertain results (VUS) requiring further testing

Interfering Factors

  • Poor DNA quality from degraded samples
  • Contamination during sample collection
  • Recent blood transfusion (within 2 weeks) may dilute DNA
  • Incomplete clinical information may affect interpretation

Compare With Similar Tests

TestMGP Gene Keutel syndrome NGS Genetic TestSanger SequencingWhole Exome Sequencing (WES)Chromosomal Microarray (CMA)
ComparisonMGP Gene Keutel syndrome NGS Genetic Test

Frequently Asked Questions

What is Keutel Syndrome?
Keutel Syndrome is a rare autosomal recessive genetic disorder caused by mutations in the MGP gene. It leads to abnormal calcification of cartilage, resulting in respiratory issues, hearing loss, short stature, and distinctive facial features.
How is Keutel Syndrome inherited?
It is inherited in an autosomal recessive pattern, meaning an individual must inherit two mutated copies of the MGP gene (one from each parent) to develop the condition. Carriers with one mutation are typically unaffected.
What does the NGS genetic test for MGP gene detect?
The test uses next-generation sequencing to analyze the entire coding region and splice sites of the MGP gene, detecting point mutations, small insertions/deletions, and splice variants that cause Keutel syndrome.
What is the cost of the MGP gene NGS test at DNA Labs India?
The test costs INR 20,000, which includes free home sample collection and a genetic counseling session. This is a special discounted price offered across India.
What sample is required for the test?
The sample can be either 2-3 ml of blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. All are acceptable for NGS analysis.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long does it take to get the test results?
The turnaround time is 3 to 4 weeks from the date the sample is received at the laboratory. Reports are delivered via email, WhatsApp, or online portal.
Can the test be done at home?
Yes, DNA Labs India offers free home sample collection for this test in over 200 cities across India. A trained phlebotomist will visit your location.
What is the significance of genetic counseling before the test?
Genetic counseling helps draw a pedigree chart, assess inheritance risk, and explain the implications of the test results. It is essential for informed decision-making.
What if the test result is negative?
A negative result means no pathogenic variants were found in the MGP gene. However, it does not completely rule out Keutel syndrome, as other genetic or non-genetic causes may be responsible. Further evaluation may be needed.
Are there any risks associated with the test?
The test involves a simple blood draw or finger-prick, which carries minimal risks such as slight bruising or infection. There are no significant health risks.
Is the test covered by insurance?
Currently, this test is not covered by most insurance schemes. However, you may check with your private insurance provider for possible reimbursement. DNA Labs India offers affordable pricing.
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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