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MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic Test

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MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic Test

Short Name: MMACHC CblC Type NGS Test

Also known as: CblC deficiency, MMACHC-related methylmalonic aciduria, Cobalamin C defect

MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) 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 TestAll Ages🏠 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 the MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic Test is to confirm a diagnosis by identifying pathogenic mutations in the MMACHC gene, differentiate it from other metabolic disorders, and guide clinical management, including personalized treatment plans and family planning counseling.

Test Code
2162
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 (Next Generation Sequencing)
Step 1

Sample Collection

Genetic counseling is recommended before sample collection to discuss test implications and family history.

Method: Venipuncture or FTA Card blood spot collection

Step 2

Laboratory Analysis

A simple blood draw via venipuncture or a finger-prick for FTA card collection, performed by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bruising. The sample is sent to the laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule genetic counseling to review medical history and obtain informed consent. No specific preparation is needed beyond standard blood draw precautions.
2
During the Test:The test involves a quick blood draw; the process takes about 10-15 minutes. For FTA cards, a small blood drop is collected from a finger prick.
3
After the Test:Results are delivered within 3-4 weeks via online portal, email, or WhatsApp. A follow-up consultation is recommended to discuss findings and next steps.

About This Test

Who Should Get This Test

The purpose of the MMACHC Gene Methylmalonic aciduria CblC type NGS Genetic Test is to confirm a diagnosis by identifying pathogenic mutations in the MMACHC gene, differentiate it from other metabolic disorders, and guide clinical management, including personalized treatment plans and family planning counseling.

How to Prepare

  • Ensure the patient is relaxed and hydrated
  • Use sterile equipment for blood draw
  • Label the sample correctly with patient details
  • For FTA card, allow blood to dry completely before packaging

Doctor's Notes

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

"Early genetic diagnosis with MMACHC testing is critical for timely management of methylmalonic aciduria CblC type, helping to prevent complications and improve quality of life through targeted therapies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood or as required
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or FTA Card blood spot collection

Sample Stability

Blood sample stable at room temperature for 48 hours
FTA card samples stable for several weeks if stored properly
Extracted DNA stable for longer periods at -20°C
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted blood samples
  • Incorrect sample type or container
  • Missing patient information or consent

Understanding Your Results

Results are interpreted based on the presence of pathogenic mutations in the MMACHC gene, indicating methylmalonic aciduria CblC type. A genetic counselor or specialist should explain the findings.
Normal Result: No pathogenic mutations detected, suggesting low likelihood of the disorder
Abnormal Result: Pathogenic mutations identified, confirming diagnosis and requiring clinical management
Uncertain Result: Variants of unknown significance found; may need family studies or follow-up testing
⚠️ When to Consult a Doctor:

Consult a healthcare professional if you or a family member experience symptoms such as developmental delays, seizures, anemia, or if there is a known family history of metabolic disorders. Early consultation is vital for timely diagnosis and intervention.

Limitations

  • ⚠May not detect all genetic variants, such as deep intronic mutations
  • ⚠Results may include variants of uncertain significance requiring further investigation
  • ⚠Genetic testing alone cannot determine disease severity; clinical correlation is needed

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain, bruising, or infection
  • ●Potential for ambiguous results that may cause anxiety, requiring genetic counseling

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Sample contamination
  • ●Degradation of DNA during transport or storage

Compare With Similar Tests

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ComparisonMMACHC Gene Methylmalonic aciduria CblC type NGS Genetic Test

Frequently Asked Questions

What is MMACHC Gene Methylmalonic aciduria CblC type?
It is a rare genetic disorder caused by mutations in the MMACHC gene, leading to impaired metabolism of amino acids and fatty acids, resulting in toxic buildup and symptoms like developmental delays and seizures.
How is the NGS Genetic Test performed?
The test uses Next Generation Sequencing to analyze DNA from a blood sample or FTA card, detecting mutations in the MMACHC gene with high accuracy.
What is the cost of the MMACHC Gene NGS Test?
The test costs INR 20000, with free home sample collection available across India at DNA Labs India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically delivered within 3 to 4 weeks via online portal, email, or WhatsApp.
What are the common symptoms of CblC type methylmalonic aciduria?
Symptoms include developmental delays, seizures, anemia, muscle weakness, poor appetite, vomiting, and enlarged liver or spleen.
Is genetic testing accurate for diagnosing this disorder?
NGS testing is highly accurate and can identify a wide range of mutations, but results should be correlated with clinical findings and family history.
What should I do if the test results are positive?
Consult a geneticist or specialist immediately for diagnosis confirmation, treatment planning, and family counseling to manage the condition effectively.
Is this test covered by insurance?
Coverage varies by insurance provider and plan; it is not commonly covered, so check with your insurer for specifics.
Can children and adults undergo this genetic test?
Yes, the test is suitable for all ages, from newborns to adults, especially if symptoms or family history are present.
How does NGS compare to other genetic tests?
NGS is more comprehensive than traditional methods like Sanger sequencing, as it can detect multiple variants simultaneously with higher sensitivity.
How can I prepare for the MMACHC Gene NGS Test?
No special preparation is needed; however, genetic counseling beforehand is recommended to understand the test 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.

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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