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POMT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 NGS Genetic Test

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POMT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 NGS Genetic Test

Short Name: POMT1 NGS Genetic Test

Also known as: POMT1-related congenital muscular dystrophy-dystroglycanopathy, Muscular Dystrophy-Dystroglycanopathy Type B1, POMT1 Gene Mutation Analysis

POMT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 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 within 3 to 4 weeks after sample submission. The report will be shared online via the patient portal and by email/WhatsApp as preferred.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 NGS genetic test is to detect pathogenic mutations in the POMT1 gene to confirm the diagnosis of muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B1. It helps distinguish this condition from other neuromuscular disorders and provides essential information for genetic counselling, family planning, and clinical management.

Test Code
4363
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks after sample submission. The report will be shared online via the patient portal and by email/WhatsApp as preferred.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session is recommended before the test to draw a pedigree chart of family members affected with POMT1 gene muscular dystrophy-dystroglycanopathy type B1. No fasting is required.

Method: Peripheral blood draw / FTA card spot

Step 2

Laboratory Analysis

A peripheral blood sample is collected by a trained phlebotomist in an EDTA tube. Alternatively, a few drops of blood may be collected on an FTA card.

Step 3

Report Delivery

No special precautions are required after sample collection. The sample is transported to the laboratory under appropriate conditions for analysis.

Timeline: Reports are delivered within 3 to 4 weeks after sample submission. The report will be shared online via the patient portal and by email/WhatsApp as preferred.

Patient Instructions

1
Before the Test:Please book an appointment. A genetic counseling session will be arranged to discuss the test, its implications, and to draw a family pedigree. No special preparation such as fasting is needed.
2
During the Test:The blood sample is collected by a trained phlebotomist. For FTA card collection, a simple finger prick may be used. The procedure is quick and minimally invasive.
3
After the Test:You can resume normal activities immediately. The sample is sent to our accredited laboratory for Next-Generation Sequencing. Results are typically available in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic mutations in the POMT1 gene to confirm the diagnosis of muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B1. It helps distinguish this condition from other neuromuscular disorders and provides essential information for genetic counselling, family planning, and clinical management.

How to Prepare

  • Identify the patient with two unique identifiers
  • Collect blood in an EDTA vacutainer or spot on FTA card
  • Label the sample tube/card with patient name, UID, and date of collection
  • Store blood at room temperature or refrigerate if delivery is delayed
  • Transport sample to the laboratory within 24-48 hours

Doctor's Notes

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

"Genetic testing for POMT1-related dystroglycanopathy is crucial for accurate diagnosis, reproductive planning, and family counseling. This test provides molecular confirmation that enables informed decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory requirement
ContainerEDTA tube / FTA card
Collection MethodPeripheral blood draw / FTA card spot

Sample Stability

Blood in EDTA: stable for 24 hours at room temperature, 7 days at 2-8°C
FTA card: stable for months at room temperature in a dry environment
Extracted DNA: stable for years at -20°C or below
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Insufficient sample volume
  • Improper labeling or missing sample details
  • Sample received in non-EDTA anticoagulant (e.g., heparin)
  • Damaged or contaminated FTA card

Understanding Your Results

The result is interpreted by a clinical geneticist in correlation with the patient's clinical symptoms, family history, and genetic counselling findings. The report includes information on whether a pathogenic/likely pathogenic variant was found in the POMT1 gene.
📊

Negative / No pathogenic variant

No disease-causing mutation was identified. If clinical suspicion is high, other genes or types of mutations may need to be considered.

📊

Positive / Pathogenic variant

A disease-causing mutation was found, confirming the clinical diagnosis. Genetic counselling and family studies are recommended.

📊

Variant of Uncertain Significance (VUS)

A DNA variant was found but its disease-causing role is unclear. Additional family testing and functional studies may be needed.

📊

Carrier

One copy of a pathogenic variant was detected in an autosomal recessive pattern; the individual is unaffected but at-risk for having an affected child.

⚠️ When to Consult a Doctor:

Consult a physician or genetic counselor if you or your child exhibit muscle weakness, hypotonia, delayed development, seizures, vision problems, or skeletal abnormalities suggestive of muscular dystrophy-dystroglycanopathy. Also consult if there is a known family history of POMT1 mutations.

Limitations

  • ⚠NGS may not detect all types of variants such as large deletions/duplications or deep intronic changes; additional testing may be required if clinically indicated
  • ⚠Variants of uncertain significance (VUS) may be identified and require further family studies to interpret
  • ⚠This test does not assess the functional impact of all identified variants
  • ⚠Results should be interpreted in the context of clinical findings and family history

Risks & Considerations

  • ●Mild pain or bruising at the blood draw site
  • ●Fainting or dizziness during blood collection (uncommon)
  • ●Infection (very rare, prevented by sterile technique)

Interfering Factors

  • ●Allogeneic bone marrow transplant can affect DNA analysis results
  • ●Recent blood transfusion may lead to mixed DNA profiles
  • ●Contamination during sample collection or handling
  • ●Extensive DNA degradation due to improper sample storage

Frequently Asked Questions

What is POMT1 gene muscular dystrophy-dystroglycanopathy type B1?
It is a rare genetic disorder caused by mutations in the POMT1 gene, leading to muscle weakness, intellectual disability, seizures, vision problems, and skeletal abnormalities.
How is this condition inherited?
It is inherited in an autosomal recessive pattern, meaning an affected individual inherits two mutated copies of the POMT1 gene, one from each parent.
What are the common symptoms?
Common symptoms include muscle weakness (especially in legs and arms), poor muscle tone (hypotonia), intellectual disability or developmental delay, seizures, vision problems, and skeletal abnormalities.
How is the diagnosis confirmed?
Diagnosis is confirmed by identifying a pathogenic mutation in the POMT1 gene through NGS genetic testing, often supported by physical examination, muscle biopsy, and brain imaging.
What is the cost of the POMT1 NGS genetic test in India?
The test cost is INR 20,000 at DNA Labs India. The exact price may vary slightly depending on the laboratory and location.
What sample is required for this test?
The sample can be whole blood in an EDTA tube, extracted DNA, or a drop of blood on an FTA card. Home sample collection is available.
Is fasting required before the test?
No, fasting is not required. You can eat and drink normally before the test.
How long does the test take to provide results?
The turnaround time for the NGS genetic test is typically 3 to 4 weeks from the date of sample receipt at the laboratory.
What does NGS technology mean?
NGS (Next-Generation Sequencing) is a highly advanced method that sequences multiple DNA regions in parallel, allowing accurate and efficient detection of mutations in genes like POMT1.
Will I receive raw data along with the report?
Yes, DNA Labs India is the only laboratory that transparently shares raw data files (FASTQ and VCF) along with the conclusive clinical report for this test.
Can this test help in family planning?
Yes, identifying a POMT1 mutation enables genetic counseling, reproductive risk assessment, and options like prenatal testing or preimplantation genetic diagnosis.
Is genetic counseling included in the test price?
Yes, a genetic counselling session to draw a family pedigree and discuss the implications of the test is included in the test package.
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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