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MCCC1 Gene 3-methylcrontonyl-CoA carboxylase 1 deficiency NGS Genetic Test

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MCCC1 Gene 3-methylcrontonyl-CoA carboxylase 1 deficiency NGS Genetic Test

Short Name: MCCC1 Deficiency NGS Test

Also known as: MCCC1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency

MCCC1 Gene 3-methylcrontonyl-CoA carboxylase 1 deficiency 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

To diagnose 3-methylcrotonyl-CoA carboxylase 1 deficiency by detecting mutations in the MCCC1 gene using next-generation sequencing, enabling early intervention and management.

Test Code
4623
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

No specific preparation required. Provide clinical history and undergo genetic counseling.

Method: Venipuncture or Saliva collection

Step 2

Laboratory Analysis

A small blood sample or saliva will be collected by a trained professional.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Store sample as instructed.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history and test implications.
2
During the Test:Sample collection via blood draw or saliva.
3
After the Test:Wait for results and follow up with genetic counseling for interpretation.

About This Test

Who Should Get This Test

To diagnose 3-methylcrotonyl-CoA carboxylase 1 deficiency by detecting mutations in the MCCC1 gene using next-generation sequencing, enabling early intervention and management.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

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

"Early genetic testing for MCCC1 deficiency is crucial for timely intervention, especially in families with a history of metabolic disorders or children with unexplained developmental delays or seizures."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Saliva collection

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MCCC1 gene. Positive results confirm MCCC1 deficiency, while negative results suggest no detected mutations, but clinical correlation is advised.
📊

Positive for pathogenic variants

Confirms diagnosis of MCCC1 deficiency. Recommend genetic counseling and metabolic management.

📊

Negative for pathogenic variants

No mutations detected in the MCCC1 gene. Consider other diagnoses if symptoms persist.

📊

Variant of uncertain significance

Further testing and family studies may be required for clarification.

⚠️ When to Consult a Doctor:

Consult a doctor if you have a family history of metabolic disorders, or if you or your child experience symptoms such as developmental delay, seizures, or muscle weakness.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may vary based on sample quality

Risks & Considerations

  • ●Minor discomfort or bruising at the blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is MCCC1 deficiency?
MCCC1 deficiency is a rare genetic disorder caused by mutations in the MCCC1 gene, leading to impaired breakdown of certain proteins and fats, resulting in symptoms like developmental delay and seizures.
How is MCCC1 deficiency diagnosed?
It is diagnosed through genetic testing, such as the NGS Genetic Test, which analyzes the MCCC1 gene for mutations. Urine tests and newborn screening may also be used.
What is the cost of the MCCC1 Gene NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
What are the symptoms of MCCC1 deficiency?
Symptoms include developmental delay, seizures, muscle weakness, difficulty feeding, vomiting, abnormal movements, and breathing difficulties.
Who should consider this test?
Individuals with a family history of metabolic disorders, or those presenting with symptoms suggestive of MCCC1 deficiency, should consider this test.
What does the test involve?
The test involves collecting a blood or saliva sample and analyzing DNA for mutations in the MCCC1 gene using next-generation sequencing.
Are there any risks associated with the test?
Risks are minimal and may include minor discomfort from blood draw or rare infection at the puncture site.
How accurate is the NGS test?
NGS is highly accurate for detecting mutations, but it may not identify all possible variants. Genetic counseling is recommended for interpretation.
What should I do after receiving the results?
Consult a healthcare provider or genetic counselor to understand the results and discuss management options.
Is genetic counseling provided?
Yes, genetic counseling is recommended before and after testing to guide patients and families through the process and implications.
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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