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MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS Genetic Test

Short Name: MCCC2 Gene NGS Test

Also known as: MCCC2 Deficiency, 3-MCC Deficiency Type 2, 3-Methylcrotonylglycinuria, MCC2 Deficiency, Beta-Methylcrotonyl-CoA Carboxylase Deficiency

MCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports will be delivered via the online portal, email, and WhatsApp.. 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 MCCC2 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the MCCC2 gene responsible for 3-methylcrotonyl-CoA carboxylase 2 deficiency. This test enables definitive molecular diagnosis, confirms clinical or biochemical suspicion, guides dietary and medical management, facilitates carrier testing in family members, and supports genetic counseling regarding recurrence risk and family planning decisions.

Test Code
4630
CPT Code
81406
ICD Code
E71.11
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports will be delivered via the online portal, email, and WhatsApp.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Analysis
Step 1

Sample Collection

Genetic counseling session is recommended prior to sample collection. A detailed clinical history of the patient and a pedigree chart of family members affected with 3-methylcrotonyl-CoA carboxylase 2 deficiency should be prepared. No fasting is required. Inform the laboratory of any recent blood transfusions.

Method: Venipuncture

Step 2

Laboratory Analysis

A venipuncture will be performed to collect 3-5 mL of blood in an EDTA (lavender top) vacutainer. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be submitted. The procedure typically takes less than 5 minutes.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball for 3-5 minutes. No specific post-collection restrictions are required. The sample will be processed and shipped to the testing laboratory under appropriate conditions.

Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Reports will be delivered via the online portal, email, and WhatsApp.

Patient Instructions

1
Before the Test:A genetic counseling session is recommended to discuss the implications of testing, obtain informed consent, and prepare a detailed family pedigree. No fasting is required. Provide complete clinical history including any newborn screening results, metabolic test reports, and family history of metabolic disorders.
2
During the Test:A blood sample (3-5 mL) will be collected via venipuncture into an EDTA vacutainer. The procedure is minimally invasive and typically takes less than 5 minutes. No sedation or special preparation is needed during sample collection.
3
After the Test:After sample collection, apply gentle pressure to the puncture site. No specific post-test restrictions are required. The sample will undergo DNA extraction, library preparation, NGS sequencing, bioinformatics analysis, and clinical interpretation. Results will be available in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of the MCCC2 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the MCCC2 gene responsible for 3-methylcrotonyl-CoA carboxylase 2 deficiency. This test enables definitive molecular diagnosis, confirms clinical or biochemical suspicion, guides dietary and medical management, facilitates carrier testing in family members, and supports genetic counseling regarding recurrence risk and family planning decisions.

How to Prepare

  • Collect 3-5 mL venous blood in an EDTA (lavender top) vacutainer
  • Alternatively, one drop of blood on an FTA card is acceptable
  • Previously extracted DNA (minimum 50 ng/µL) may also be submitted
  • Label the sample clearly with patient name, date of birth, and date of collection
  • Store blood sample at 2-8°C and transport to the laboratory within 48 hours
  • Avoid hemolyzed or clotted samples

Doctor's Notes

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

"MCCC2 deficiency is one of the most commonly identified organic acidemias on newborn screening. While many individuals remain asymptomatic, early genetic confirmation through NGS allows clinicians to implement preventive dietary management, avoid metabolic decompensation during physiological stress, and provide accurate recurrence risk counseling to families. I recommend this test for any infant with elevated C5-OH acylcarnitine on newborn screening or for symptomatic individuals with suggestive metabolic profiles."

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 EDTA Blood
ContainerEDTA (Lavender Top) Vacutainer or FTA Card
Collection MethodVenipuncture

Sample Stability

EDTA Blood at Room Temperature
EDTA Blood at 2-8°C
Extracted DNA at -20°C
FTA Card at Room Temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Samples without proper labeling or identification
  • Samples collected in incorrect anticoagulant (e.g., heparin)
  • Severely degraded DNA samples
  • Samples with insufficient volume

Understanding Your Results

The results of the MCCC2 Gene NGS Genetic Test will indicate whether pathogenic or likely pathogenic variants were identified in the MCCC2 gene. Results should be interpreted in the context of clinical findings, family history, and biochemical test results by a qualified geneticist or metabolic specialist.
📊

No Pathogenic Variants Detected

No disease-causing variants were identified in the MCCC2 gene. This significantly reduces the likelihood of MCCC2 deficiency but does not completely exclude it if clinical suspicion remains high. Further biochemical evaluation and consideration of other genetic causes may be warranted.

📊

Pathogenic or Likely Pathogenic Variants (Homozygous/Compound Heterozygous)

Two pathogenic or likely pathogenic variants detected in the MCCC2 gene, consistent with a diagnosis of 3-methylcrotonyl-CoA carboxylase 2 deficiency. Dietary management with leucine restriction, avoidance of fasting, and emergency protocols during illness should be discussed with the treating metabolic specialist.

📊

Pathogenic or Likely Pathogenic Variant (Heterozygous - Single)

A single pathogenic variant was detected, indicating carrier status for MCCC2 deficiency. The individual is typically unaffected but may pass the variant to offspring. Carrier testing of the partner and genetic counseling are recommended.

📊

Variant of Uncertain Significance (VUS)

A variant was detected whose clinical significance is currently unknown. This result alone is not diagnostic. Clinical correlation, family studies, functional data, and periodic re-evaluation as new evidence becomes available are recommended.

⚠️ When to Consult a Doctor:

Consult a geneticist or metabolic specialist if the test reveals pathogenic variants in the MCCC2 gene, if a variant of uncertain significance is detected, if clinical symptoms persist despite a negative result, or if you require guidance on dietary management, emergency protocols, family planning, or prenatal testing options.

Limitations

  • ⚠This test does not detect variants in deep intronic or regulatory regions not covered by the NGS panel
  • ⚠Structural rearrangements beyond the detection capability of NGS may not be identified
  • ⚠A negative result does not completely exclude MCCC2 deficiency if caused by variants in non-coding regions
  • ⚠Variants of uncertain significance (VUS) may be detected and may require further clinical correlation
  • ⚠This test does not replace biochemical testing for functional enzyme activity assessment

Risks & Considerations

  • ●Minor bruising or discomfort at the venipuncture site
  • ●Extremely rare risk of infection at the puncture site
  • ●Psychological impact of genetic results, including anxiety or distress
  • ●Potential identification of variants of uncertain significance requiring further evaluation

Interfering Factors

  • ●Degraded or insufficient DNA quality may affect sequencing accuracy
  • ●Blood sample contamination or improper storage can impact results
  • ●Recent blood transfusion within the past 4 weeks may affect DNA analysis
  • ●Presence of pseudogenes or homologous sequences may require additional confirmation

Compare With Similar Tests

TestMCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS Genetic TestNGS Genetic Test (MCCC2 Gene)Sanger SequencingAcylcarnitine Profile (Biochemical)Targeted Mutation Analysis
ComparisonMCCC2 Gene 3-methylcrontonyl-CoA carboxylase 2 deficiency NGS Genetic Test

Frequently Asked Questions

What is MCCC2 gene 3-methylcrotonyl-CoA carboxylase 2 deficiency?
MCCC2 deficiency is a rare autosomal recessive inherited metabolic disorder caused by mutations in the MCCC2 gene. It impairs the enzyme 3-methylcrotonyl-CoA carboxylase, which is necessary for breaking down the amino acid leucine. This leads to accumulation of toxic metabolites and can cause symptoms ranging from mild to severe, including developmental delay, seizures, and metabolic crises.
Who should get the MCCC2 Gene NGS Genetic Test?
This test is recommended for individuals with abnormal newborn screening results showing elevated C5-OH acylcarnitine, those with clinical symptoms suggestive of an organic acidemia, individuals with elevated urinary 3-methylcrotonylglycine, those with a family history of MCCC2 deficiency, and family members requiring carrier testing.
What sample is required for the MCCC2 Gene NGS Genetic Test?
The test requires a blood sample (3-5 mL) collected in an EDTA vacutainer. Alternatively, one drop of blood on an FTA card or previously extracted DNA can be submitted. No fasting is required before sample collection.
How long does it take to get the results of the MCCC2 Gene NGS Genetic Test?
Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. The report will be delivered through the online portal, email, and WhatsApp.
What is the cost of the MCCC2 Gene NGS Genetic Test in India?
The cost of the MCCC2 Gene 3-methylcrotonyl-CoA carboxylase 2 deficiency NGS Genetic Test at DNA Labs India is INR 20,000. This price includes sample collection, NGS sequencing, bioinformatics analysis, clinical interpretation, and delivery of raw data, FASTQ, and VCF files along with the clinical report.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India. This service is available in all major cities including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more locations nationwide.
What does a positive result mean for MCCC2 deficiency?
A positive result indicating homozygous or compound heterozygous pathogenic variants in the MCCC2 gene confirms a diagnosis of 3-methylcrotonyl-CoA carboxylase 2 deficiency. This allows your healthcare team to implement appropriate dietary management with leucine restriction, establish emergency protocols during illness, and provide genetic counseling for family planning.
Can MCCC2 deficiency be treated?
While there is no cure for MCCC2 deficiency, it can be managed effectively through dietary restriction of leucine intake, avoidance of prolonged fasting, prompt treatment during metabolic crises, and supplementation with L-carnitine in some cases. Early diagnosis through genetic testing enables timely intervention and better outcomes.
What is the difference between MCCC1 and MCCC2 deficiency?
Both MCCC1 and MCCC2 genes encode the alpha and beta subunits of the 3-methylcrotonyl-CoA carboxylase enzyme, respectively. Mutations in either gene can cause a clinically similar form of 3-methylcrotonyl-CoA carboxylase deficiency. Genetic testing can distinguish between the two, which is important for accurate genetic counseling and family studies.
Is MCCC2 deficiency inherited?
Yes, MCCC2 deficiency follows an autosomal recessive inheritance pattern. This means an affected individual inherits one mutated copy of the MCCC2 gene from each parent. Carriers (with one mutated copy) are typically unaffected. When both parents are carriers, there is a 25% chance with each pregnancy that the child will be affected.
Does DNA Labs India provide raw genetic data along with the clinical report?
Yes, DNA Labs India is the only lab that transparently shares Raw Data, FASTQ, and VCF files along with the conclusive clinical report for the MCCC2 Gene NGS Genetic Test. This allows patients and their healthcare providers to store, reanalyze, or seek second opinions on the genetic data at any time.
Can this test be used for prenatal diagnosis or carrier testing?
Yes, once pathogenic variants are identified in an affected family member, targeted testing can be offered to at-risk family members for carrier status determination. For prenatal diagnosis, the specific familial mutations can be tested in fetal DNA obtained through chorionic villus sampling (CVS) or amniocentesis. Genetic counseling is strongly recommended before pursuing prenatal 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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