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MACF1 Gene Neurodevelopmental disorder, MACF1 related NGS Genetic Test

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MACF1 Gene Neurodevelopmental disorder, MACF1 related NGS Genetic Test

Short Name: MACF1 NGS Genetic Test

Also known as: MACF1-Related Neurodevelopmental Disorder, Microtubule-Actin Crosslinking Factor 1 Gene Disorder

MACF1 Gene Neurodevelopmental disorder, MACF1 related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, 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 TestUnisex🏠 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 mutations in the MACF1 gene for diagnosis of MACF1-related neurodevelopmental disorders, enabling accurate clinical management and genetic counseling.

Test Code
1772
Price
₹20,000
Sample Type
Blood, 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

Consult a genetic counselor for pre-test counseling and family history assessment.

Method: Blood draw or FTA card collection

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist; for FTA card, a finger prick blood drop is collected.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bruising; store sample as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss risks, benefits, and implications of testing.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Receive report via online portal, email, or WhatsApp; follow-up with healthcare provider.

About This Test

Who Should Get This Test

To detect mutations in the MACF1 gene for diagnosis of MACF1-related neurodevelopmental disorders, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Provide clinical history and family pedigree
  • Ensure sample is labeled correctly
  • Avoid hemolysis in blood samples

Doctor's Notes

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

"Genetic testing for MACF1 mutations is crucial for early diagnosis and personalized management of neurodevelopmental disorders, aiding in informed clinical decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Collection MethodBlood draw or FTA card collection

Sample Stability

Blood: 2-8°C for 48 hours
FTA card: Room temperature for several weeks
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or mislabeled samples

Understanding Your Results

Results are interpreted based on the presence of pathogenic or likely pathogenic variants in the MACF1 gene, correlated with clinical symptoms.
📊

Confirms diagnosis of MACF1-related neurodevelopmental disorder

📊

No pathogenic variants detected; clinical evaluation recommended

📊

Further testing or family studies may be needed

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if symptoms are present, or after receiving positive test results for management planning.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires clinical correlation for diagnosis

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection

Interfering Factors

  • ●Contaminated or degraded DNA sample

Compare With Similar Tests

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ComparisonMACF1 Gene Neurodevelopmental disorder, MACF1 related NGS Genetic Test

Frequently Asked Questions

What is MACF1 Gene Neurodevelopmental Disorder?
It is a rare genetic disorder caused by mutations in the MACF1 gene, affecting nervous system development and leading to symptoms like intellectual disability and seizures.
What are the common symptoms of this disorder?
Symptoms include delayed speech, intellectual disability, behavioral problems, autism spectrum disorder, schizophrenia, and seizures.
How is MACF1 Gene Neurodevelopmental Disorder diagnosed?
Diagnosis involves clinical evaluation, genetic testing (NGS), neurological assessments, and psychological testing.
What is NGS genetic testing?
Next-Generation Sequencing (NGS) is a advanced genetic testing method that identifies mutations in genes like MACF1 with high accuracy.
What is the cost of the MACF1 genetic test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
How long does it take to get test results?
Reports are delivered within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across many cities in India.
What sample types are required for the test?
The test can be performed using blood, extracted DNA, or one drop of blood on an FTA card.
Are there any risks associated with this genetic test?
The test involves minimal risks, such as bruising from blood draw; genetic counseling is recommended.
How accurate is the NGS genetic test for MACF1?
NGS is highly accurate for detecting pathogenic variants, but results should be correlated with clinical symptoms.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible but requires consultation with a genetic specialist for appropriate sample collection.
What should I do after receiving the test results?
Consult a healthcare provider or genetic counselor to discuss results, management options, and follow-up care.
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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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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