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RTTN Gene Microcephaly, short stature, and polymicrogyria with seizures NGS Genetic Test

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RTTN Gene Microcephaly, short stature, and polymicrogyria with seizures NGS Genetic Test

Short Name: RTTN Gene Microcephaly Test

Also known as: RTTN Gene NGS Test, Microcephaly Genetic Test, Polymicrogyria with Seizures Genetic Test

RTTN Gene Microcephaly, short stature, and polymicrogyria with seizures NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect pathogenic mutations in the RTTN gene that cause microcephaly, short stature, and polymicrogyria with seizures, aiding in accurate diagnosis, genetic counseling, and informed clinical management.

Test Code
2774
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
NGS Technology
Step 1

Sample Collection

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

Method: Blood or Saliva

Step 2

Laboratory Analysis

Standard blood draw or saliva collection procedure performed by a trained phlebotomist.

Step 3

Report Delivery

Sample is labeled and transported to the laboratory under ambient conditions for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss test purpose, process, and implications; review of patient's clinical history and family pedigree.
2
During the Test:Non-invasive sample collection via blood or saliva in a clinical or home setting.
3
After the Test:Results are delivered in 3-4 weeks; follow-up with a healthcare provider for interpretation and management planning.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the RTTN gene that cause microcephaly, short stature, and polymicrogyria with seizures, aiding in accurate diagnosis, genetic counseling, and informed clinical management.

How to Prepare

  • No fasting required
  • Provide detailed clinical history of the patient
  • Attend a genetic counseling session prior to testing

Doctor's Notes

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

"Early genetic testing for RTTN gene mutations can aid in timely intervention and management of associated neurological disorders, improving patient outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood or Saliva
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the RTTN gene, which are associated with the specified neurological disorders.
📊

Positive

Pathogenic variant detected in RTTN gene, confirming genetic basis for microcephaly, short stature, and/or polymicrogyria with seizures.

📊

Negative

No pathogenic variants detected; symptoms may be due to other genetic or environmental factors.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unknown; further testing and family studies may be required.

⚠️ When to Consult a Doctor:

If symptoms such as seizures, developmental delays, or abnormal head size are observed, consult a geneticist or neurologist for evaluation and possible testing.

Limitations

  • ⚠May not detect all genetic variants; clinical correlation is essential
  • ⚠Results require interpretation by a genetic specialist

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Potential psychological impact of genetic results on family

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Frequently Asked Questions

What is the RTTN Gene Microcephaly NGS Genetic Test?
It is a next-generation sequencing test that detects mutations in the RTTN gene, associated with microcephaly, short stature, and polymicrogyria with seizures.
Who should consider this test?
Individuals, especially children, showing symptoms like small head size, seizures, developmental delays, or short stature, and those with a family history of these conditions.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How much does the test cost?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
What is the turnaround time for results?
Results are typically available within 3 to 4 weeks after sample collection.
How is the test performed?
The test uses next-generation sequencing (NGS) technology to analyze the RTTN gene for mutations.
What do positive results mean?
Positive results indicate a pathogenic mutation in the RTTN gene, confirming a genetic cause for the associated disorders.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising. Psychological impact of results should be considered.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection in many cities across India.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis; consult a genetic counselor for prenatal options.
How should I prepare for genetic counseling?
Gather family medical history and be prepared to discuss symptoms and concerns with a genetic counselor.
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.

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✓ 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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