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STIL Gene Microcephaly, autosomal recessive type 7 NGS Genetic Test

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STIL Gene Microcephaly, autosomal recessive type 7 NGS Genetic Test

Short Name: STIL Gene Microcephaly NGS Test

Also known as: STIL Gene Mutation Test, Microcephaly Type 7 Genetic Test, Autosomal Recessive Microcephaly NGS Test

STIL Gene Microcephaly, autosomal recessive type 7 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect mutations in the STIL gene associated with autosomal recessive type 7 microcephaly, aiding in accurate diagnosis, genetic counseling, and personalized management for affected individuals and families.

Test Code
2771
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw via venipuncture from a vein in the arm.

Step 3

Report Delivery

Apply pressure to the site to prevent bleeding; keep the area clean.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before testing.
2
During the Test:Blood sample collection and NGS analysis in the laboratory.
3
After the Test:Report generation and delivery; follow-up with genetic counselor for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the STIL gene associated with autosomal recessive type 7 microcephaly, aiding in accurate diagnosis, genetic counseling, and personalized management for affected individuals and families.

How to Prepare

  • No fasting required
  • Bring clinical history documents and genetic counseling notes
  • Ensure sample is collected in an EDTA tube

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"This test is essential for early diagnosis and genetic counseling in families with a history of microcephaly, aiding in informed decision-making and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume5 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Store at 2-8°C if delayed
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the STIL gene. Positive results confirm a genetic cause for microcephaly, while negative results may require further testing.
Positive: Pathogenic variant detected, indicating autosomal recessive type 7 microcephaly
Negative: No pathogenic variants detected, but clinical correlation needed
Variant of Uncertain Significance (VUS): Further research or family studies recommended
⚠️ When to Consult a Doctor:

If symptoms of microcephaly are present, such as small head size or developmental delays, or if there is a family history of genetic disorders.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have variants of uncertain significance (VUS)

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection at the site
  • ●Emotional impact of genetic results

Interfering Factors

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

Compare With Similar Tests

TestSTIL Gene Microcephaly, autosomal recessive type 7 NGS Genetic TestASPM Gene Microcephaly TestMCPH1 Gene TestWhole Exome Sequencing
ComparisonSTIL Gene Microcephaly, autosomal recessive type 7 NGS Genetic Test

Frequently Asked Questions

What is the STIL Gene Microcephaly NGS Genetic Test?
It is a Next Generation Sequencing test to detect mutations in the STIL gene, causing autosomal recessive type 7 microcephaly.
Who should consider this test?
Individuals with symptoms of microcephaly, such as small head size or developmental delays, or those with a family history of the condition.
What are the symptoms of autosomal recessive type 7 microcephaly?
Symptoms include abnormally small head size, delayed motor and speech development, intellectual disability, seizures, and abnormal facial features.
How is the test performed?
A blood sample is collected and analyzed using Next Generation Sequencing technology to identify STIL gene mutations.
What is the cost of the test?
The test costs INR 20000, with home sample collection available at no extra charge.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks.
What do the results mean?
Positive results indicate a pathogenic variant in the STIL gene, confirming the diagnosis. Negative results may require further evaluation.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to discuss implications and draw a family pedigree chart.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising or infection.
How accurate is the NGS genetic test?
NGS technology provides high accuracy for detecting mutations, but results should be interpreted by a genetic specialist.
What should I do if the test is positive?
Consult a healthcare provider for management options, genetic counseling, and family planning advice.
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

Your Data Privacy

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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