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MMADHC Gene Methylmalonic aciduria CblD type NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MMADHC Gene Methylmalonic aciduria CblD type NGS Genetic Test

Short Name: MMADHC Gene Test

Also known as: CblD Type Methylmalonic Aciduria, MMADHC Gene Mutation Analysis, Methylmalonic Aciduria Coenzyme A Mutase Deficiency

MMADHC Gene Methylmalonic aciduria CblD type 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 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

To detect pathogenic mutations in the MMADHC gene for the diagnosis of Methylmalonic Aciduria CblD Type, enabling early management, genetic counseling, and family planning.

Test Code
2163
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 the patient and a genetic counseling session to draw a pedigree chart of family members affected with Methylmalonic Aciduria CblD Type. No fasting is required.

Method: Venipuncture for blood or saliva collection

Step 2

Laboratory Analysis

Standard blood collection via venipuncture or saliva sample collection. The process is minimally invasive and quick.

Step 3

Report Delivery

Sample is processed in the laboratory for DNA extraction and NGS analysis. Maintain sample at ambient room temperature if not immediate.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Complete clinical history and genetic counseling session recommended. No specific preparation required.
2
During the Test:Simple blood draw or saliva collection, taking only a few minutes.
3
After the Test:Results are available in 3-4 weeks. Genetic counseling to discuss findings is advised.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the MMADHC gene for the diagnosis of Methylmalonic Aciduria CblD Type, enabling early management, genetic counseling, and family planning.

How to Prepare

  • Blood sample: Collect in EDTA tube or use FTA card with one drop of blood.
  • Saliva sample: Use provided collection kit and follow instructions.
  • Ensure proper labeling and transport at room temperature.

Doctor's Notes

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

"Early genetic testing for Methylmalonic Aciduria CblD Type is crucial for accurate diagnosis, management, and family planning, especially in high-risk families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood or saliva collection

Sample Stability

Blood samples: Stable for up to 7 days at room temperature.
Extracted DNA: Stable for extended periods if stored properly.
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the MMADHC gene. Interpretation should be done by a qualified geneticist in the context of clinical findings.
Normal: No pathogenic variants detected. Low likelihood of Methylmalonic Aciduria CblD Type due to MMADHC mutations.
Pathogenic Variant Detected: Diagnosis of Methylmalonic Aciduria CblD Type confirmed. Requires medical management and genetic counseling.
Variant of Uncertain Significance (VUS): Further testing and family studies may be needed for clarification.
Likely Pathogenic: High probability of disorder, clinical correlation recommended.
⚠️ When to Consult a Doctor:

If symptoms such as developmental delays, seizures, or feeding difficulties are present, or if there is a family history of metabolic disorders. Also, consult after receiving test results for management guidance.

Limitations

  • ⚠May not detect all possible genetic variants or mosaicism
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Genetic counseling is recommended before and after testing

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or discomfort at the collection site.
  • ●No significant risks associated with saliva collection.

Interfering Factors

  • ●DNA sample integrity compromised
  • ●Insufficient sample volume
  • ●Contamination during sample collection

Frequently Asked Questions

What is the MMADHC Gene Methylmalonic Aciduria CblD Type NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the MMADHC gene for mutations causing Methylmalonic Aciduria CblD Type, a rare metabolic disorder.
What are the symptoms of Methylmalonic Aciduria CblD Type?
Symptoms include developmental delays, feeding difficulties, weak muscle tone, seizures, organ dysfunction, and hyperammonemia, varying in severity.
How is the test performed?
The test is performed on a blood or saliva sample collected at home or a clinic. DNA is extracted and analyzed using NGS technology.
What is the cost of this test?
The test costs INR 20000 at DNA Labs India, with free home sample collection across India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across numerous cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic mutations in the MMADHC gene are detected. Interpretation should be done by a genetic counselor or specialist.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand implications and management options.
Can this test diagnose other disorders?
This test specifically targets Methylmalonic Aciduria CblD Type related to MMADHC gene mutations. Other conditions may require different tests.
Is the test accurate?
NGS genetic testing is highly accurate for detecting mutations, but limitations exist. Consult a healthcare professional for interpretation.
What should I do if the test is positive?
If positive, consult a genetic specialist or metabolic disorder expert for management, which may include dietary changes and medical therapies.
Are there any risks involved?
Risks are minimal, such as bruising from blood draw. The test itself poses no direct health risks.
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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