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GFM2 Gene Microcephaly with symplified gyral pattern and insulin-dependant diabetes NGS Genetic Test

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GFM2 Gene Microcephaly with symplified gyral pattern and insulin-dependant diabetes NGS Genetic Test

Short Name: GFM2 NGS Test

Also known as: GFM2 Gene Sequencing, Microcephaly Diabetes NGS Panel

GFM2 Gene Microcephaly with symplified gyral pattern and insulin-dependant diabetes 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 after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 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

The purpose of this test is to confirm a clinical diagnosis of GFM2-related microcephaly with simplified gyral pattern and insulin-dependent diabetes, identify the underlying genetic cause, and facilitate informed reproductive and therapeutic decisions.

Test Code
5848
CPT Code
81407
ICD Code
Q04.3, E10.9
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 after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. However, a genetic counseling session is recommended before testing to discuss the implications and obtain informed consent.

Method: Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

Blood sample is collected by a trained phlebotomist. For FTA card, a few drops of blood are placed on the card and allowed to dry.

Step 3

Report Delivery

No specific precautions. The sample is transported to the laboratory at ambient temperature.

Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Discuss with your doctor about the need for genetic testing. Provide a detailed family history and any previous test results.
2
During the Test:The test involves a simple blood draw or FTA card sample. No pain or special preparation is required.
3
After the Test:You will receive a detailed report in 3-4 weeks. Genetic counseling is available to explain the results and implications.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a clinical diagnosis of GFM2-related microcephaly with simplified gyral pattern and insulin-dependent diabetes, identify the underlying genetic cause, and facilitate informed reproductive and therapeutic decisions.

How to Prepare

  • Ensure patient identification is correct
  • Use sterile EDTA tube for blood collection
  • For FTA card, apply blood drops evenly and air dry
  • Label the sample with patient name and date
  • Transport at room temperature within 24 hours

Doctor's Notes

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

"Genetic testing for GFM2 mutations is crucial for early diagnosis and management of this rare neurodevelopmental and metabolic disorder. A multidisciplinary approach involving genetics, neurology, and endocrinology is recommended."

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 5 µg DNA
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card blood spot

Sample Stability

Blood: 7 days at room temperature
Extracted DNA: 1 month at -20°C
FTA card: 6 months at room temperature
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • Insufficient sample volume
  • Improper labeling
  • Sample received after prolonged transit time without proper storage

Understanding Your Results

The test report will indicate whether a pathogenic or likely pathogenic variant in the GFM2 gene was identified. If a variant is found, the report will include its clinical significance and recommendations for management.
Positive: Pathogenic variant detected – confirms diagnosis, enables family testing and prenatal diagnosis.
Negative: No pathogenic variant detected – does not exclude the condition, other genetic causes may be considered.
VUS: Variant of uncertain significance – further studies may be needed to clarify its role.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or pediatric neurologist if your child has microcephaly, developmental delay, seizures, or early-onset diabetes. Genetic counseling is recommended before and after testing.

Limitations

  • ⚠This test detects mutations in the GFM2 gene only; other genetic causes of microcephaly or diabetes may not be identified.
  • ⚠Variants of uncertain significance may be reported; further testing may be required.
  • ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be recommended.
  • ⚠Regulatory regions and deep intronic variants are not analyzed.
  • ⚠Test results should be interpreted in the context of clinical findings and family history.

Risks & Considerations

  • ●No significant physical risks associated with blood draw
  • ●Possible emotional impact of genetic results
  • ●Risk of finding variants of uncertain significance

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Contamination during sample collection
  • ●Presence of maternal cell contamination in prenatal samples
  • ●Incomplete clinical information for variant interpretation

Compare With Similar Tests

TestGFM2 Gene Microcephaly with symplified gyral pattern and insulin-dependant diabetes NGS Genetic TestWhole Exome SequencingChromosomal MicroarrayTargeted Gene Panel
ComparisonGFM2 Gene Microcephaly with symplified gyral pattern and insulin-dependant diabetes NGS Genetic TestWES analyzes all coding regions of the genome, while this test focuses only on GFM2 gene. WES may be considered if GFM2 testing is negative but clinical suspicion remains high.CMA detects copy number variations, not point mutations. It is useful for detecting deletions/duplications but not for single-gene disorders like GFM2.A panel may include multiple genes associated with microcephaly and diabetes, providing a broader analysis than single-gene testing.

Frequently Asked Questions

What is the cost of the GFM2 gene NGS test?
The test costs INR 20,000, which includes genetic counseling and the clinical report.
What sample is required for this test?
Blood or extracted DNA or one drop of blood on an FTA card is accepted.
How long does it take to get results?
Reports are typically available within 3 to 4 weeks.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
What does a positive result mean?
A positive result indicates a pathogenic variant in the GFM2 gene, confirming the diagnosis.
Can this test be done for prenatal diagnosis?
Yes, but only after prior confirmation of the familial variant and with appropriate genetic counseling.
Are there any risks associated with the test?
The test is safe with minimal risks, mainly related to blood collection.
Will insurance cover this test?
Insurance coverage varies; we recommend checking with your provider.
What is the turnaround time?
The turnaround time is 3 to 4 weeks from sample receipt.
Do I need to fast before the test?
No, fasting is not required.
Can I get the raw data files?
Yes, DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical report.
What is the significance of genetic counseling?
Genetic counseling helps you understand the inheritance pattern, risks to family members, and implications of the test results.
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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