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FKRP Gene Muscular dystrophy type 1C NGS Genetic Test

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FKRP Gene Muscular dystrophy type 1C NGS Genetic Test

Short Name: FKRP MDC1C NGS

FKRP Gene Muscular dystrophy type 1C 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 typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to detect mutations in the FKRP gene associated with Muscular Dystrophy Type 1C. It helps confirm a clinical diagnosis, guide management and treatment, and enable genetic counselling for affected families.

Test Code
4349
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Fasting is not necessary. A genetic counselling session is recommended to draw a pedigree chart of family members affected with FKRP Gene Muscular Dystrophy Type 1C.

Method: Blood draw or FTA card blood spot

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist. Alternatively, a few drops of blood on FTA card may be used.

Step 3

Report Delivery

No restrictions. You may resume normal activities immediately.

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

Patient Instructions

1
Before the Test:No special preparation required. A pre-test genetic counselling session is recommended to discuss the purpose, process, and implications of the test.
2
During the Test:A small blood sample is collected. The procedure is quick and generally painless.
3
After the Test:You can leave immediately after sample collection. The sample will be sent to the laboratory for NGS analysis. Results will be available in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the FKRP gene associated with Muscular Dystrophy Type 1C. It helps confirm a clinical diagnosis, guide management and treatment, and enable genetic counselling for affected families.

How to Prepare

  • Ensure the sample is correctly labelled with your name and identification number.
  • Inform the lab if you are taking any medications or have any bleeding disorders.
  • For FTA card collection, apply only the required number of blood drops and allow to air dry.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube / FTA card
Collection MethodBlood draw or FTA card blood spot

Understanding Your Results

Test results are interpreted in the context of clinical history, family history, and other laboratory findings. A positive result indicates the presence of pathogenic variants in the FKRP gene.
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Positive (pathogenic variant detected)

Genetic confirmation of FKRP Gene Muscular Dystrophy Type 1C. Inheritance is autosomal recessive; genetic counselling is recommended for the family.

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Negative (no pathogenic variant detected)

No disease-causing mutation identified in the FKRP gene. This does not rule out muscular dystrophy if clinical suspicion remains; additional genetic testing may be considered.

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Variant of Uncertain Significance (VUS)

A genetic change was found whose association with the disease is not yet known. Further family studies and functional analysis may be required.

⚠️ When to Consult a Doctor:

If you or your child experiences progressive muscle weakness, delayed motor milestones, difficulty walking, or other symptoms suggestive of muscular dystrophy, consult a neurologist or clinical geneticist for evaluation.

Limitations

  • This test specifically evaluates mutations in the FKRP gene. Other genetic causes of muscular dystrophy are not assessed by this single-gene test.

Risks & Considerations

  • Minor bruising at the puncture site
  • Dizziness or fainting during blood draw
  • Rare risk of infection at the collection site

Frequently Asked Questions

What is FKRP Gene Muscular Dystrophy Type 1C?
It is a rare inherited muscular dystrophy caused by mutations in the FKRP gene, leading to progressive muscle weakness and wasting.
How much does the FKRP Gene NGS Genetic Test cost at DNA Labs India?
The test costs INR 20,000 inclusive of home sample collection and the clinical report.
What sample is required for this test?
The sample can be blood, extracted DNA, or a few drops of blood on an FTA card.
Do I need to fast before this test?
No, fasting is not required for this genetic test.
How long will it take to get the report?
Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What technology is used for this test?
Next-Generation Sequencing (NGS) technology is used to analyse the FKRP gene for mutations.
Will I receive raw data files along with the report?
Yes, DNA Labs India provides raw data, FASTQ, and VCF files along with the conclusive clinical report.
Who should undergo this test?
Individuals with symptoms of muscular dystrophy such as muscle weakness, delayed motor development, or a family history of FKRP-related conditions should consider this test.
Can this test detect all types of muscular dystrophy?
No, this test specifically detects mutations in the FKRP gene. Other forms of muscular dystrophy may require different or broader panels.
Is genetic counselling available before the test?
Yes, a genetic counselling session is recommended to draw a pedigree chart of family members affected with the condition.
How is the sample collected for this test?
A blood sample is collected by a phlebotomist, or a blood spot on FTA card can be provided.
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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