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DOK7 Gene Myasthenic syndrome, congenital, type 10 NGS Genetic Test

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DOK7 Gene Myasthenic syndrome, congenital, type 10 NGS Genetic Test

Short Name: DOK7 CMS10 Test

Also known as: Congenital Myasthenic Syndrome Type 10, DOK7-related myasthenic syndrome, CMS10

DOK7 Gene Myasthenic syndrome, congenital, type 10 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.

NGS Genetic Test🏠 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 detect pathogenic mutations in the DOK7 gene, which causes congenital myasthenic syndrome type 10. This helps in accurate diagnosis, determining genetic inheritance, guiding management, and enabling family planning.

Test Code
1739
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 of patient and genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or one drop blood on FTA card.

Step 3

Report Delivery

Sample is transported to the laboratory for NGS analysis under controlled conditions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Clinical history and genetic counseling are required before sample collection.
2
During the Test:Blood sample is collected via venipuncture or using an FTA card.
3
After the Test:Sample is processed for NGS analysis, and results are delivered in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic mutations in the DOK7 gene, which causes congenital myasthenic syndrome type 10. This helps in accurate diagnosis, determining genetic inheritance, guiding management, and enabling family planning.

How to Prepare

  • Ensure proper labeling of sample
  • Use sterile collection tubes
  • Follow standard phlebotomy procedures

Doctor's Notes

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

"Genetic testing for DOK7 mutations is crucial for confirming diagnosis, guiding treatment options, and informing family planning strategies for congenital myasthenic syndrome."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: Stable for 48 hours at room temperature
FTA Card: Stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled sample

Understanding Your Results

Interpretation of results involves analyzing the presence or absence of pathogenic mutations in the DOK7 gene. A positive result confirms the genetic cause, while a negative result may require further testing.
Positive: Pathogenic variants detected, indicating DOK7-related myasthenic syndrome
Negative: No pathogenic variants detected; consider other genetic or clinical factors
Variant of uncertain significance: Requires further evaluation and genetic counseling
⚠️ When to Consult a Doctor:

Consult a doctor or genetic counselor if symptoms such as muscle weakness or fatigue persist, for family planning advice, or to understand test results and management options.

Limitations

  • ⚠May not detect all possible genetic variants
  • ⚠Requires genetic counseling for interpretation

Risks & Considerations

  • ●Minor bruising at needle site
  • ●Rare risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality

Frequently Asked Questions

What is DOK7 Gene Myasthenic Syndrome, Congenital, Type 10?
It is a rare autosomal recessive genetic disorder caused by mutations in the DOK7 gene, affecting the neuromuscular junction and leading to muscle weakness and fatigue.
What are the common symptoms of this syndrome?
Symptoms include muscle weakness, fatigue, difficulty breathing, droopy eyelids, difficulty swallowing, slurred speech, and delayed motor development.
How is DOK7 Gene Myasthenic Syndrome inherited?
It is inherited in an autosomal recessive pattern, meaning an affected individual must inherit two mutated copies of the DOK7 gene, one from each parent.
What is the NGS Genetic Test for DOK7?
Next-generation sequencing (NGS) is a technology used to identify mutations in the DOK7 gene, aiding in the diagnosis of congenital myasthenic syndrome type 10.
What is the cost of the DOK7 Gene NGS Genetic Test in India?
The cost is INR 20,000, which includes sample collection, analysis, and report generation.
How is the sample collected for this test?
A blood sample is collected via venipuncture, or one drop of blood on an FTA card. Extracted DNA can also be used.
What is the turnaround time for receiving results?
Results are typically available in 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, free home sample collection is available for online bookings across many cities in India.
What does a positive test result indicate?
A positive result confirms the presence of pathogenic mutations in the DOK7 gene, diagnosing DOK7-related myasthenic syndrome.
Can this test be used for family planning purposes?
Yes, genetic testing can inform family planning by identifying carriers and assessing risk for future offspring.
Are there any risks associated with the test?
Risks are minimal and may include minor bruising or infection at the needle site, similar to standard blood draws.
How should I prepare for the test?
No fasting is required. Ensure you have a clinical history ready and consider genetic counseling before testing.
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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