Skip to main content
DNA Labs India

MAT1A Gene Methionine adenosyltransferase deficiency, autosomal recessive NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MAT1A Gene Methionine adenosyltransferase deficiency, autosomal recessive NGS Genetic Test

Short Name: MAT1A Gene NGS Test

Also known as: MAT1A Methionine Adenosyltransferase Deficiency Genetic Test, MAT1A Hypermethioninemia NGS Test, SAMe Deficiency Gene Test

MAT1A Gene Methionine adenosyltransferase deficiency, autosomal recessive 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

This test is performed to confirm the molecular diagnosis of autosomal recessive methionine adenosyltransferase deficiency caused by mutations in the MAT1A gene. It helps clinicians correlate clinical and biochemical findings, provide accurate genetic counselling, determine reproductive risks, and guide management decisions in affected individuals and carrier family members.

Test Code
4293
ICD Code
E72.1
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

Written informed consent and genetic counselling are recommended. Fasting is not required. A family pedigree should be documented by a genetics professional before testing.

Method: Peripheral venipuncture / dried blood spot on FTA card

Step 2

Laboratory Analysis

Blood is collected by venipuncture into an EDTA vacutainer. For FTA card, one drop of blood is spotted on the marked area and air-dried. For extracted DNA, the sample should be in a sterile labelled tube.

Step 3

Report Delivery

Pressure is applied to the puncture site. The sample should be transported to the laboratory according to provided guidelines. Results are typically available in 3 to 4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:The patient should complete a genetic counselling session before the test. Fasting is not required. The clinician will document relevant personal and family history, and informed consent should be obtained.
2
During the Test:A blood sample is drawn or an FTA card dried blood spot is prepared. For extracted DNA specimens, the sample is transferred to an appropriate sterile labelled container.
3
After the Test:The sample is sent to the laboratory and results are available in 3 to 4 weeks. Post-test genetic counselling is recommended to review the report and discuss family implications.

About This Test

Who Should Get This Test

This test is performed to confirm the molecular diagnosis of autosomal recessive methionine adenosyltransferase deficiency caused by mutations in the MAT1A gene. It helps clinicians correlate clinical and biochemical findings, provide accurate genetic counselling, determine reproductive risks, and guide management decisions in affected individuals and carrier family members.

How to Prepare

  • For blood sample: 2-3 ml in EDTA vacutainer, mix gently to prevent clotting.
  • For FTA card: one drop of blood on each printed circle, air dry, avoid heat and humidity.
  • For extracted DNA: 2-5 µg in a sterile DNA stabilisation vial.
  • All samples must be labelled with patient name, identification number, date and time of collection.

Doctor's Notes

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

"A pathogenic MAT1A variant must be interpreted with clinical and biochemical correlation. Since methionine adenosyltransferase deficiency can cause syndromic neurological and hepatic findings, a multidisciplinary approach is important."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml whole blood / 1 drop blood on FTA card / 2-5 µg extracted DNA
ContainerEDTA vacutainer / FTA card / sterile DNA vial
Collection MethodPeripheral venipuncture / dried blood spot on FTA card

Sample Stability

Whole blood in EDTA at room temperature: 72 hours
Whole blood in EDTA at 2-8°C: 5-7 days
FTA card dried blood at room temperature: up to 6 weeks as per laboratory protocol
Extracted DNA at -20°C: up to 1 year as per laboratory protocol
Sample Rejection Criteria:
  • Clotted, hemolysed or frozen whole blood
  • Insufficient or diluted sample
  • Improperly stored FTA card, such as wet or mouldy card
  • Mislabelled or unlabelled sample

Understanding Your Results

The result should be interpreted by a clinical geneticist in the context of clinical findings, methionine and SAMe levels, and family history.
Biallelic likely pathogenic or pathogenic variants in MAT1A are consistent with autosomal recessive MAT1A deficiency.
A single heterozygous pathogenic or likely pathogenic variant indicates carrier status unless another variant is missed.
A negative result does not completely exclude deficiency if no pathogenic variant is identified; further metabolic testing may be needed.
Variants of uncertain significance should not be used alone for diagnosis or prenatal decision-making.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist or neurologist if methionine is persistently high, if liver symptoms are unexplained, or if family history suggests autosomal recessive MAT1A deficiency.

Risks & Considerations

  • ●Minor bleeding or bruising at the venepuncture site
  • ●Variant of uncertain significance causing psychological uncertainty
  • ●Psychological impact of a confirmed diagnosis or carrier status
  • ●Genetic results may have implications for other family members

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Hemolysed or contaminated blood sample
  • ●Variants of uncertain significance (VUS)
  • ●Sample mislabelling or mixed samples

Compare With Similar Tests

TestMAT1A Gene Methionine adenosyltransferase deficiency, autosomal recessive NGS Genetic Test
ComparisonMAT1A Gene Methionine adenosyltransferase deficiency, autosomal recessive NGS Genetic Test

Frequently Asked Questions

What is MAT1A gene methionine adenosyltransferase deficiency?
It is a rare autosomal recessive metabolic disorder caused by mutations in MAT1A, leading to reduced S-adenosylmethionine (SAMe) production and elevated methionine. Clinical features may be absent or include jaundice, liver enlargement, developmental delay, intellectual disability and neurological problems.
How is MAT1A deficiency inherited?
It is inherited in an autosomal recessive manner. A child must inherit two altered copies of MAT1A, one from each parent. Parents are typically asymptomatic carriers.
What are the symptoms of MAT1A deficiency?
Symptoms can include jaundice, hepatomegaly, splenomegaly, hypotonia, developmental delay, intellectual disability, behavioural problems, seizures, muscle weakness and coordination difficulties. Some affected individuals are asymptomatic.
What is the role of genetic testing in MAT1A deficiency?
Genetic testing identifies pathogenic variants in MAT1A and confirms the clinical or biochemical diagnosis. It also helps provide accurate recurrence-risk counselling for families and identify carriers.
What does the MAT1A NGS genetic test at DNA Labs India analyse?
The test uses next-generation sequencing technology to analyse the MAT1A gene for disease-causing variants. It provides a clinical report along with raw data files.
What are the sample requirements for this test?
The sample can be 2-3 ml blood in EDTA, extracted DNA, or one drop of blood on an FTA card. No fasting is required.
How much does the MAT1A genetic test cost?
The test cost at DNA Labs India is Rs 20000. This includes NGS analysis, clinical report and raw data files. Free home sample collection is available for online bookings.
How long will the report take?
The reports are provided within 3 to 4 weeks after the sample reaches the laboratory.
Is genetic counselling required before the test?
Yes, a genetic counselling session is recommended so that the family history or pedigree can be documented and the implications and limitations of the test are clearly understood before sample collection.
Will I receive raw data files with the report?
DNA Labs India shares raw data files, including FASTQ and VCF files, along with the conclusive clinical report. This is provided for full transparency.
Can this test detect carriers?
Yes, the test can identify heterozygous carriers in families affected by MAT1A deficiency, which is useful for reproductive planning and genetic counselling.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.