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B4GAT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 NGS Genetic Test

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B4GAT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 NGS Genetic Test

Short Name: B4GAT1 MDDGA13 NGS

Also known as: MDDGA13, B4GAT1-related congenital muscular dystrophy-dystroglycanopathy, B4GAT1-associated muscular dystrophy-dystroglycanopathy with brain and eye anomalies, Congenital muscular dystrophy-dystroglycanopathy type A13

B4GAT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically issued within 3 to 4 weeks after the sample reaches the laboratory.. 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 this NGS genetic test is to identify disease-causing variants in the B4GAT1 gene in individuals with clinical features suggestive of muscular dystrophy-dystroglycanopathy, congenital with brain and eye anomalies, type A13. Confirmatory genetic testing is important for accurate diagnosis, management planning, reproductive counselling and recurrence-risk assessment.

Test Code
4357
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically issued within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation
Step 1

Sample Collection

["No fasting is required for this test.", "A clinical history of the patient should be provided to the laboratory.", "A genetic counselling session to draw a pedigree chart of family members affected with B4GAT1-related muscular dystrophy-dystroglycanopathy is recommended.", "Please share any previous genetic testing reports or muscle biopsy results if available."]

Method: Peripheral venipuncture; FTA card blood spot; or extracted DNA shipment

Step 2

Laboratory Analysis

["A blood sample will be collected by an experienced phlebotomist.", "If using an FTA card, a small drop of blood from a finger or heel prick may be collected.", "Samples must be labelled correctly at the time of collection."]

Step 3

Report Delivery

["No special precautions are needed after sample collection.", "The sample will be transported to the laboratory under appropriate temperature conditions.", "Reports will be delivered within 3 to 4 weeks through the selected delivery mode."]

Timeline: Reports are typically issued within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:The referring doctor and genetic counsellor should explain the purpose of the test, expected outcomes, limitations and possible implications for family members. A pedigree chart should be prepared.
2
During the Test:A single blood sample or FTA card sample is taken. The sample is sent to the genetics laboratory where DNA extraction, NGS library preparation, sequencing, data analysis and variant interpretation are performed.
3
After the Test:The laboratory will issue a detailed report. The patient should schedule a post-test genetic counselling session to understand the result, medical management plan and reproductive options.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify disease-causing variants in the B4GAT1 gene in individuals with clinical features suggestive of muscular dystrophy-dystroglycanopathy, congenital with brain and eye anomalies, type A13. Confirmatory genetic testing is important for accurate diagnosis, management planning, reproductive counselling and recurrence-risk assessment.

How to Prepare

  • No fasting required.
  • Provide a clinical summary and relevant family history.
  • Complete the test request form and consent before sample collection.
  • Home sample collection is available for online bookings.
  • For FTA card sampling, ensure the card is dry before placing it in the protective sleeve.

Doctor's Notes

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

"If a family has a child with suspected congenital muscular dystrophy with brain and eye involvement, timely genetic testing and referral to clinical genetics is important for accurate counselling and recurrence-risk assessment in future pregnancies."

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 in EDTA; or 2-5 μg extracted DNA; or 2 blood spots on FTA card
ContainerEDTA vacutainer, sterile DNA tube, or FTA card
Collection MethodPeripheral venipuncture; FTA card blood spot; or extracted DNA shipment

Sample Stability

Whole blood in EDTA: 2-8°C for up to 72 hours; ambient temperature for 24 hours
Extracted DNA: -20°C or below for long-term stability
FTA card blood spots: stable at room temperature for several months
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Insufficient sample quantity
  • Incorrectly labelled or unlabelled sample
  • Sample received without required clinical details or consent

Understanding Your Results

Interpretation of B4GAT1 genetic test results should be performed by a clinical geneticist in the context of clinical symptoms, imaging findings and family history.
📊

Biallelic pathogenic or likely pathogenic variants were identified in the B4GAT1 gene. This confirms the diagnosis of muscular dystrophy-dystroglycanopathy type A13 in a symptomatic individual.

Result type: Positive

📊

A single pathogenic variant was identified. This may indicate carrier status; a second variant may be present in a region not covered by this test, so further analysis or family studies may be needed.

Result type: Heterozygous pathogenic variant identified

📊

A genetic change was identified but its clinical significance is currently unknown. Additional testing of family members and correlation with clinical findings may help clarify the variant.

Result type: Variant of uncertain significance (VUS)

📊

No pathogenic or likely pathogenic variant was identified in the coding regions and splice sites of the B4GAT1 gene tested. This does not exclude all genetic causes, and other genes or testing methods may be considered.

Result type: Negative

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if the patient has early hypotonia, progressive muscle weakness, delayed development, seizures, intellectual disability or congenital eye and brain abnormalities.

Limitations

  • ⚠This targeted NGS test is limited to the B4GAT1 gene and does not evaluate other genes associated with muscular dystrophy-dystroglycanopathy
  • ⚠Large structural rearrangements, deep intronic variants and certain regulatory region variants may not be detected by this NGS approach
  • ⚠Variants of uncertain significance may require additional family studies or functional analysis
  • ⚠A negative result does not exclude the possibility of another genetic disorder with similar clinical features

Risks & Considerations

  • ●Minor pain or bruising at the blood collection site
  • ●Dizziness or vasovagal reaction during blood collection
  • ●Rare risk of local infection
  • ●No direct physical risks from the genetic test itself

Interfering Factors

  • ●Recent allogeneic bone marrow transplantation may affect DNA test results because blood-derived DNA may reflect donor DNA
  • ●Recent blood transfusion can rarely affect extracted DNA quality or introduce donor leukocytes
  • ●Incorrect sample labelling or incomplete requisition may delay testing
  • ●DNA degradation due to improper transport or storage may interfere with NGS quality

Compare With Similar Tests

TestB4GAT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 NGS Genetic Test
ComparisonB4GAT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 NGS Genetic Test

Frequently Asked Questions

What is B4GAT1 gene muscular dystrophy-dystroglycanopathy type A13?
It is a rare inherited condition caused by changes in the B4GAT1 gene. It affects the glycosylation of alpha-dystroglycan, leading to early-onset muscle weakness, brain malformations and eye anomalies. It follows an autosomal recessive pattern of inheritance.
What symptoms are associated with B4GAT1 disease?
Symptoms may include hypotonia, muscle wasting, delayed milestones, intellectual disability, seizures, lissencephaly, cataracts or retinal abnormalities. The severity varies between affected individuals.
How is the B4GAT1 NGS genetic test performed?
DNA is extracted from the sample and the coding regions and splice sites of the B4GAT1 gene are enriched and sequenced using next-generation sequencing. Identified variants may be confirmed with Sanger sequencing.
What sample is required for this test?
The test can be performed on whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. The requirement depends on the specimen being submitted.
Do I need to fast before the B4GAT1 NGS test?
No fasting is required. The test can be done at any time of the day.
How long will the reports take?
Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory, because NGS analysis and variant interpretation require time.
What does a positive test result mean?
A positive result means that biallelic pathogenic or likely pathogenic variants were identified in the B4GAT1 gene. This confirms the diagnosis of muscular dystrophy-dystroglycanopathy type A13 in a symptomatic individual.
What does a negative test result mean?
A negative result means no pathogenic variants were detected in the tested regions of B4GAT1. It does not exclude all genetic causes of the patient's symptoms, and additional genes or tests may be needed.
Can this test detect carriers?
Yes, if a known familial variant is present, NGS can identify heterozygous carriers. Carrier testing is best discussed with a genetic counsellor or clinical geneticist.
Who should consider this genetic test?
This test is recommended for individuals with clinical or radiological features suggesting congenital muscular dystrophy-dystroglycanopathy, especially when brain and eye anomalies are present.
Is genetic counselling important after the test?
Yes, genetic counselling is essential to interpret results, discuss inheritance, recurrence risk and management options. A pedigree chart is often prepared before testing.
What is the cost of the B4GAT1 NGS test at DNA Labs India?
The test costs INR 20000 with free home sample collection available for online bookings across major cities in 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.

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