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DOK7 Gene Fetal akinesia deformation sequence NGS Genetic Test

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DOK7 Gene Fetal akinesia deformation sequence NGS Genetic Test

Also known as: Fetal Akinesia Deformation Sequence, FADS

DOK7 Gene Fetal akinesia deformation sequence 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 identify mutations in the DOK7 gene for diagnosis of Fetal Akinesia Deformation Sequence.

Test Code
2732
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

Clinical history and genetic counseling session required.

Step 2

Laboratory Analysis

Blood sample collection or DNA extraction.

Step 3

Report Delivery

Sample sent to lab for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Blood sample collection for DNA extraction.
3
After the Test:Results available in 3-4 weeks; follow-up consultation advised.

About This Test

Who Should Get This Test

To identify mutations in the DOK7 gene for diagnosis of Fetal Akinesia Deformation Sequence.

How to Prepare

  • Provide clinical history
  • Genetic counseling session to draw pedigree chart
  • Blood sample or FTA card collection

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the DOK7 gene.
📊

Positive for pathogenic variant

Confirms diagnosis of FADS due to DOK7 mutation. Genetic counseling recommended.

📊

Negative for pathogenic variant

No DOK7 mutation detected. Clinical correlation advised.

⚠️ When to Consult a Doctor:

If symptoms of FADS are present or family history exists, consult a geneticist or pediatrician.

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Genetic counseling for emotional support

Frequently Asked Questions

What is the DOK7 Gene Fetal Akinesia Deformation Sequence NGS Genetic Test?
It is a genetic test that uses Next Generation Sequencing to detect mutations in the DOK7 gene associated with Fetal Akinesia Deformation Sequence (FADS).
What are the symptoms of Fetal Akinesia Deformation Sequence?
Symptoms include decreased fetal movement, joint contractures, underdeveloped muscles, respiratory distress, scoliosis, and cleft palate.
How is FADS diagnosed?
Diagnosis involves ultrasound imaging, physical examination, and genetic testing to confirm mutations.
What is the cost of the DOK7 gene NGS test?
The test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks.
Who should consider taking this test?
Individuals with a family history of FADS or those showing symptoms suggestive of the condition.
What does a positive test result indicate?
A positive result confirms the presence of a pathogenic variant in the DOK7 gene, indicating FADS.
What is NGS technology?
Next Generation Sequencing (NGS) is an advanced DNA sequencing technology that allows for rapid and accurate analysis of genes.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart and discuss implications.
Are there any risks associated with the test?
The test involves a standard blood draw, which has minimal risks. Genetic counseling is provided for emotional support.
How can I book the DOK7 gene NGS test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp.
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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✓ 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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