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MOCS1 Gene Molybdenum cofactor deficiency type A NGS Genetic Test

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MOCS1 Gene Molybdenum cofactor deficiency type A NGS Genetic Test

Short Name: MOCS1 Gene Test

Also known as: MOCS1 deficiency, Molybdenum cofactor deficiency type A genetic test, MOCS1 gene mutation analysis

MOCS1 Gene Molybdenum cofactor deficiency type A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) 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 MOCS1 Gene Molybdenum Cofactor Deficiency Type A NGS Genetic Test is to detect mutations in the MOCS1 gene that cause molybdenum cofactor deficiency type A. This test helps in confirming diagnosis, understanding the genetic basis of the disorder, guiding treatment strategies, and providing genetic counseling for affected families.

Test Code
2178
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
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation required. Ensure patient history and genetic counseling session are completed.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample is collected via venipuncture or finger prick for FTA card.

Step 3

Report Delivery

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

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review recommended.
2
During the Test:Blood sample collection and processing for NGS.
3
After the Test:Report analysis and consultation with healthcare provider.

About This Test

Who Should Get This Test

The purpose of the MOCS1 Gene Molybdenum Cofactor Deficiency Type A NGS Genetic Test is to detect mutations in the MOCS1 gene that cause molybdenum cofactor deficiency type A. This test helps in confirming diagnosis, understanding the genetic basis of the disorder, guiding treatment strategies, and providing genetic counseling for affected families.

How to Prepare

  • Use sterile equipment
  • Label sample correctly
  • Transport at appropriate temperature

Doctor's Notes

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

"Genetic testing for MOCS1 deficiency is essential for early intervention, family planning, and management of affected individuals."

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 blood or 1-2 drops on FTA card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood in EDTA tube: stable at 2-8°C for up to 48 hours
FTA card: stable at room temperature for several weeks
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect sample type
  • Insufficient sample volume

Understanding Your Results

Results indicate the presence or absence of mutations in the MOCS1 gene. Pathogenic mutations confirm diagnosis of molybdenum cofactor deficiency type A.
📊

Negative for MOCS1 gene mutations; clinical correlation advised

Action: Consider other genetic or metabolic tests if symptoms persist

📊

Positive for MOCS1 gene mutation; confirms diagnosis

Action: Initiate management, genetic counseling, and family screening

⚠️ When to Consult a Doctor:

Consult a geneticist or metabolic specialist if symptoms of molybdenum cofactor deficiency are present, or for family members of affected individuals.

Limitations

  • ⚠Detection limited to known mutations in MOCS1 gene
  • ⚠May not identify novel variants
  • ⚠Cannot determine severity without clinical correlation

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising or infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●DNA quality issues
  • ●Sample contamination
  • ●Technical errors in sequencing

Compare With Similar Tests

TestMOCS1 Gene Molybdenum cofactor deficiency type A NGS Genetic TestMOCS2 Gene Molybdenum Cofactor Deficiency Type B NGS Genetic TestSulfite Oxidase Deficiency Genetic TestXanthine Dehydrogenase Deficiency TestGeneral Metabolic Disorder Panel
ComparisonMOCS1 Gene Molybdenum cofactor deficiency type A NGS Genetic Test

Frequently Asked Questions

What is MOCS1 Gene Molybdenum Cofactor Deficiency?
It is a rare genetic disorder caused by mutations in the MOCS1 gene, leading to deficiency of molybdenum cofactor and accumulation of toxic metabolites.
How is the MOCS1 Gene Test performed?
The test uses Next Generation Sequencing (NGS) to analyze the MOCS1 gene for mutations from a blood or DNA sample.
What are the symptoms of this condition?
Symptoms include seizures, developmental delay, intellectual disability, muscle stiffness, feeding difficulties, abnormal eye movements, and respiratory problems.
Who should take this test?
Individuals with symptoms of molybdenum cofactor deficiency, or family members of affected individuals, should consider this test.
What is the cost of the test?
The MOCS1 Gene Molybdenum Cofactor Deficiency Type A NGS Genetic Test costs INR 20,000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the MOCS1 gene, confirming the diagnosis.
Can this test detect all mutations?
The test detects known mutations in the MOCS1 gene, but may not identify all possible variants.
Is genetic counseling provided?
Yes, a genetic counseling session is included to discuss results and implications.
How accurate is the test?
NGS provides high accuracy for detecting mutations, but results should be interpreted in clinical context.
What should I do after getting results?
Consult a healthcare provider or geneticist for management and family planning.
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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