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MESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 NGS Genetic Test

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MESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 NGS Genetic Test

Short Name: MESP2 Gene SCD Type 2 NGS Test

Also known as: SCD Type 2, MESP2-related spondylocostal dysostosis, Autosomal recessive spondylocostal dysostosis 2

MESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 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.

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

To diagnose mutations in the MESP2 gene causing spondylocostal dysostosis type 2, enabling accurate clinical management and genetic counseling.

Test Code
5134
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

Genetic counseling session recommended to discuss implications and draw a pedigree chart.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Standard blood draw procedure using aseptic technique.

Step 3

Report Delivery

Sample labeled and transported to the laboratory under controlled conditions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to assess family history and obtain informed consent.
2
During the Test:Blood sample collection via venipuncture or finger prick.
3
After the Test:Wait for results (3-4 weeks) and schedule follow-up counseling for interpretation.

About This Test

Who Should Get This Test

To diagnose mutations in the MESP2 gene causing spondylocostal dysostosis type 2, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Avoid hemolysis during blood collection
  • Ensure proper labeling with patient details
  • Use FTA card for one-drop blood if specified

Doctor's Notes

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

"This test is crucial for diagnosing rare skeletal disorders and guiding family planning, especially in consanguineous families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml blood or as per standard protocol
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood: Stable for 48 hours at room temperature
Extracted DNA: Stable for years if stored at -20°C or below
Sample Rejection Criteria:
  • Insufficient sample volume
  • Improperly labeled or contaminated sample
  • Clotted blood in EDTA tube

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MESP2 gene, which are associated with spondylocostal dysostosis type 2.
📊

Positive for pathogenic variant

Confirms diagnosis of MESP2-related spondylocostal dysostosis; genetic counseling and family screening recommended.

📊

Negative for pathogenic variant

No pathogenic variants detected in MESP2 gene; clinical correlation needed as symptoms may be due to other genetic or non-genetic causes.

📊

Variant of uncertain significance (VUS)

Genetic variant identified but clinical significance unknown; further testing and follow-up advised.

⚠️ When to Consult a Doctor:

If symptoms such as spinal deformities, rib abnormalities, or breathing difficulties are present, or if there is a family history of genetic skeletal disorders.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires clinical correlation for interpretation
  • ⚠Genetic counseling is recommended pre- and post-test

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for uncertain findings requiring further testing

Interfering Factors

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

Compare With Similar Tests

TestMESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 NGS Genetic TestDLL3 Gene Spondylocostal Dysostosis Type 1 NGS TestHES7 Gene Spondylocostal Dysostosis Type 3 NGS TestComprehensive Skeletal Dysplasia Gene Panel
ComparisonMESP2 Gene Spondylocostal dysostosis, autosomal recessive type 2 NGS Genetic Test

Frequently Asked Questions

What is the MESP2 Gene Spondylocostal dysostosis type 2 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the MESP2 gene, which causes spondylocostal dysostosis type 2, a rare disorder affecting spine and rib development.
Who should consider taking this test?
Individuals with symptoms like abnormal spinal curvature, rib defects, short stature, or breathing difficulties, and those with a family history of the disorder or consanguinity.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology to sequence the MESP2 gene for pathogenic variants.
What is the cost of the test?
The test costs INR 20,000, with home sample collection available across India at no additional charge.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
Positive results confirm a diagnosis of MESP2-related spondylocostal dysostosis, while negative results may require further clinical evaluation.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but genetic results may have psychological implications.
Can this test be used for prenatal diagnosis?
It is primarily for postnatal diagnosis; prenatal testing may require specialized procedures like amniocentesis and genetic counseling.
What is the accuracy of the test?
NGS provides high accuracy for detecting mutations, but no test is 100% foolproof; clinical correlation is essential.
How should I prepare for the test?
No fasting is required; ensure genetic counseling is done beforehand and follow sample collection instructions.
What if the test is positive?
Consult a geneticist or specialist for management options, genetic counseling for family members, and potential interventions for symptoms.
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

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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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