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MEGF8 Gene Carpenter syndrome type 2 NGS Genetic Test

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MEGF8 Gene Carpenter syndrome type 2 NGS Genetic Test

Short Name: MEGF8 Carpenter Syndrome Type 2 NGS Test

MEGF8 Gene Carpenter syndrome 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.

Pediatrics🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the MEGF8 gene for diagnosis of Carpenter Syndrome Type 2, aiding in clinical management and genetic counseling.

Test Code
5693
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

Clinical history and genetic counseling session recommended to understand the test and implications.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture under aseptic conditions.

Step 3

Report Delivery

Sample is processed and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation to assess indications and discuss test implications.
2
During the Test:Sample collection and processing for NGS analysis.
3
After the Test:Report generation, delivery, and follow-up consultation for interpretation and management.

About This Test

Who Should Get This Test

To identify mutations in the MEGF8 gene for diagnosis of Carpenter Syndrome Type 2, aiding in clinical management and genetic counseling.

How to Prepare

  • Ensure proper sample labeling with patient details
  • Follow aseptic techniques to avoid contamination
  • Use appropriate collection tubes as specified

Doctor's Notes

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

"This test is crucial for early diagnosis and management of Carpenter Syndrome Type 2, allowing for timely intervention and genetic counseling to support affected individuals and families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood sample stable at room temperature for up to 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Improperly labeled or contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MEGF8 gene associated with Carpenter Syndrome Type 2.
Positive: Pathogenic variant detected in MEGF8 gene, consistent with Carpenter Syndrome Type 2 diagnosis.
Negative: No pathogenic variants detected, but clinical correlation is advised as symptoms may be due to other causes.
Variant of uncertain significance (VUS): Further testing, family studies, or clinical follow-up may be needed for clarification.
⚠️ When to Consult a Doctor:

If symptoms of Carpenter Syndrome Type 2 are present, such as facial abnormalities, skeletal issues, or developmental delays, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of genetic results, requiring counseling support

Interfering Factors

  • ●DNA degradation
  • ●Sample contamination
  • ●Technical errors in sequencing

Frequently Asked Questions

What is Carpenter Syndrome Type 2?
Carpenter Syndrome Type 2 is a rare genetic disorder caused by mutations in the MEGF8 gene, characterized by distinct facial features, skeletal abnormalities, and intellectual disability.
What causes Carpenter Syndrome Type 2?
It is caused by mutations in the MEGF8 gene, which provides instructions for a protein involved in organ development.
What are the common symptoms of Carpenter Syndrome Type 2?
Symptoms include a small head, prominent forehead, widely spaced eyes, small jaw, skeletal abnormalities like fused spine bones, intellectual disability, developmental delays, and heart defects.
How is Carpenter Syndrome Type 2 diagnosed?
Diagnosis involves clinical evaluation, genetic testing such as NGS to identify MEGF8 mutations, and imaging studies like X-rays or CT scans.
What is the MEGF8 gene?
The MEGF8 gene provides instructions for making a protein crucial for the development of organs including the brain, heart, and kidneys.
What is Next-Generation Sequencing (NGS) testing?
NGS is a genetic testing method that sequences DNA to identify mutations in genes like MEGF8, providing accurate diagnosis for genetic disorders.
How much does the MEGF8 Gene Carpenter Syndrome Type 2 NGS Genetic Test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do if the test results are positive?
If positive, consult a healthcare provider or genetic counselor for further management, treatment options, and family planning advice.
Is genetic counseling recommended before or after the test?
Yes, genetic counseling is recommended before testing to understand implications and after for result interpretation and support.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; for prenatal diagnosis, consult a genetic specialist for appropriate testing options.
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

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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.

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