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MAN1B1 Gene Mental retardation, autosomal recessive type 15 NGS Genetic Test

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MAN1B1 Gene Mental retardation, autosomal recessive type 15 NGS Genetic Test

Short Name: MAN1B1 MRT15 NGS Test

Also known as: MRT15 Genetic Test, MAN1B1 Gene Mutation Test, MAN1B1 Sequencing Test

MAN1B1 Gene Mental retardation, autosomal recessive type 15 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 Reports are delivered in 3 to 4 weeks after the laboratory receives the sample.. Free home collection in 300+ cities across India.

NGS Genetic TestAll age groups🏠 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 this test is to identify pathogenic variants in the MAN1B1 gene and to support the clinical diagnosis of mental retardation, autosomal recessive type 15. It also helps determine carrier status in at-risk individuals, clarify the genetic cause in families, and guide reproductive and treatment planning.

Test Code
4257
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered in 3 to 4 weeks after the laboratory receives the sample.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A detailed clinical history and family pedigree are recommended. A referral from a neurologist or clinical geneticist is helpful. Genetic counselling before the test is advised.

Method: Venipuncture or FTA card blood spot or extracted DNA sample

Step 2

Laboratory Analysis

A health worker will collect a peripheral blood sample, prepare an FTA card blood spot, or accept a pre-extracted DNA sample. The procedure is simple and usually takes only a few minutes.

Step 3

Report Delivery

The sample is labelled and sent to the laboratory. Results are generally available in 3 to 4 weeks. Please schedule a post-test genetic counselling session to understand the report.

Timeline: Reports are delivered in 3 to 4 weeks after the laboratory receives the sample.

Patient Instructions

1
Before the Test:No fasting is required. The referring clinician should provide relevant clinical details, including developmental milestones, neurological findings, and family history.
2
During the Test:The sample is collected using a simple blood draw, FTA card spot, or submission of extracted DNA. No special preparation is needed.
3
After the Test:The laboratory will send the report through the selected delivery mode. A genetic counsellor should help interpret the result and discuss family implications.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the MAN1B1 gene and to support the clinical diagnosis of mental retardation, autosomal recessive type 15. It also helps determine carrier status in at-risk individuals, clarify the genetic cause in families, and guide reproductive and treatment planning.

How to Prepare

  • Whole blood sample should be collected in an EDTA tube and mixed gently.
  • FTA card: apply one drop of blood and allow it to air dry completely.
  • Extracted DNA: transfer in a sterile, labelled tube with patient identification.
  • All samples must be labelled with the patient's name, date of birth, and collection date.

Doctor's Notes

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

"Genetic counselling before and after testing is important to understand the inheritance pattern of MRT15, recurrence risks and reproductive options."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeSample type dependent
ContainerEDTA vacutainer / FTA card / sterile DNA vial
Collection MethodVenipuncture or FTA card blood spot or extracted DNA sample

Sample Stability

FTA card at room temperature in a dry sealed bag with desiccant is stable for transport.
EDTA blood at 2-8°C is stable for short-term transport.
Extracted DNA at -20°C is stable for long-term storage.
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Unlabelled or mislabelled sample
  • FTA card that is wet or contaminated
  • Insufficient DNA quantity or degraded DNA
  • Sample received in an improper transport container

Understanding Your Results

Results should always be interpreted in the context of clinical findings, family history, and genetic counselling. The following patterns are commonly used to explain MAN1B1 NGS results.
📊

No pathogenic variant detected

Does not rule out MRT15; other genetic causes may be considered.

📊

Single heterozygous pathogenic or likely pathogenic variant

May indicate carrier status if inheritance is autosomal recessive; a second variant may not have been identified. Parental segregation testing is recommended.

📊

Biallelic pathogenic or likely pathogenic variants

Consistent with autosomal recessive mental retardation type 15 (MRT15).

📊

Variant of uncertain significance

Not enough evidence to confirm diagnosis; further family studies and clinical correlation are needed.

⚠️ When to Consult a Doctor:

Consult a neurologist, paediatrician, or clinical geneticist if a child shows developmental delay, intellectual disability, seizures, unusual facial features, or if there is a family history of MRT15.

Limitations

  • ⚠NGS can detect most single-nucleotide variants and small insertions/deletions in the coding regions and splice sites, but not all mutation types.
  • ⚠Large exon-level deletions or duplications may not be reliably identified unless separate copy-number analysis is performed.
  • ⚠Deep intronic variants, regulatory region changes, and complex structural rearrangements may not be detected.
  • ⚠Mutations in other genes can cause similar phenotypes; a negative result does not exclude all genetic causes.
  • ⚠Variants of uncertain significance may require additional segregation or functional analysis.

Risks & Considerations

  • ●Routine blood draw carries minimal risk of pain, bruising, or infection.
  • ●FTA card finger-prick sampling is minimally invasive.
  • ●Genetic test results may cause psychological distress; genetic counselling is recommended.

Interfering Factors

  • ●Insufficient quantity or quality of extracted DNA
  • ●Sample degradation during transport
  • ●Low sequencing coverage in specific regions
  • ●Potential contamination during sample handling
  • ●Variants outside the analysed target regions

Compare With Similar Tests

TestMAN1B1 Gene Mental retardation, autosomal recessive type 15 NGS Genetic TestMAN1B1 NGS genetic testSanger sequencingMulti-gene intellectual disability panel
ComparisonMAN1B1 Gene Mental retardation, autosomal recessive type 15 NGS Genetic Test

Frequently Asked Questions

What is the MAN1B1 gene test?
This is an NGS-based genetic test that reads the MAN1B1 gene to identify mutations associated with mental retardation, autosomal recessive type 15.
What is mental retardation, autosomal recessive type 15?
It is a rare inherited disorder characterized by intellectual disability, delayed speech and motor development. Additional features may include seizures and facial or skeletal changes.
Who may need this test?
Individuals with unexplained intellectual disability or developmental delay, seizures, a family history of MRT15, or those who need carrier status information in affected families.
What type of sample is required?
Whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card can be used.
Do I need to fast before the test?
No, fasting is not required. The test can be done at any time of day.
How much does the test cost at DNA Labs India?
The test costs Rs 20,000, including sample collection, NGS testing, clinical report, and home sample collection in many Indian cities.
How long will the reports take?
Reports are provided in 3 to 4 weeks after the sample reaches the laboratory.
Why is NGS used for this test?
NGS allows comprehensive sequencing of the MAN1B1 gene in one run, detecting single-nucleotide variants and small insertions or deletions with high sensitivity.
Can this test tell if I am a carrier?
Yes, if a single pathogenic variant in MAN1B1 is found, it can indicate carrier status in an unaffected individual, especially when family history is known.
What does a positive result mean?
A positive result means a disease-causing mutation was found in the MAN1B1 gene, which supports the diagnosis of MRT15. Confirmatory segregation testing in parents is usually advised.
Does the test detect all possible mutations?
NGS covers the coding regions and splice sites of MAN1B1. It may not detect large gene rearrangements, deep intronic mutations, or variants outside covered regions. Additional testing may be needed for some mutation types.
Will I receive raw data?
Yes, DNA Labs India is transparent and provides raw data files including FASTQ and VCF along with the clinical report.
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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