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POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C NGS Genetic Test

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POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C NGS Genetic Test

Short Name: POMK LGMD 12C NGS Test

Also known as: LGMD12C, POMK-related muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 12C

POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C 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 TestChildren and Adults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose limb-girdle muscular dystrophy type 12C caused by mutations in the POMK gene using next-generation sequencing, enabling accurate clinical management and genetic counseling.

Test Code
1670
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

Provide complete clinical history and family pedigree during genetic counseling. No specific fasting required, but inform about any medications.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist using standard venipuncture techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended to understand test implications and draw a family pedigree.
2
During the Test:DNA extraction and sequencing using NGS technology to analyze the POMK gene.
3
After the Test:Report generation and delivery via online portal, email, or WhatsApp within 3-4 weeks.

About This Test

Who Should Get This Test

To diagnose limb-girdle muscular dystrophy type 12C caused by mutations in the POMK gene using next-generation sequencing, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Ensure patient identification is accurate
  • Use sterile collection equipment
  • Label sample correctly with patient details
  • Transport sample at ambient temperature as per guidelines

Doctor's Notes

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

"This NGS test is crucial for confirming diagnosis of POMK-related limb-girdle muscular dystrophy, guiding management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the POMK gene. Positive findings confirm diagnosis of LGMD type 12C, while negative results may require further clinical evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of POMK-related limb-girdle muscular dystrophy

📊

No pathogenic variant detected

POMK gene mutation not identified; consider other genetic causes

📊

Variant of uncertain significance

Requires further analysis or family studies

⚠️ When to Consult a Doctor:

Consult a neurologist or genetic specialist if symptoms persist, worsen, or if there is a family history of muscular dystrophy for appropriate management and counseling.

Limitations

  • ⚠May not detect all genetic variants, including deep intronic mutations
  • ⚠Requires genetic counseling for result interpretation
  • ⚠Results may not predict disease severity or progression

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results; counseling provided

Interfering Factors

  • ●Sample contamination
  • ●Improper sample handling or storage
  • ●Low DNA quantity or quality

Compare With Similar Tests

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ComparisonPOMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C NGS Genetic Test

Frequently Asked Questions

What is POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C?
It is a rare genetic disorder caused by mutations in the POMK gene, leading to muscle weakness in the hip and shoulder areas.
What are the common symptoms of this condition?
Symptoms include muscle wasting, difficulty climbing stairs, toe walking, contractures, and potential cardiac or respiratory issues.
How is the test performed?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood sample for mutations in the POMK gene.
What is the cost of the POMK Gene NGS Genetic Test?
The test costs INR 20000 at DNA Labs India, with home collection available.
Is home sample collection available for this test?
Yes, free home collection is offered for online bookings across India.
How long does it take to receive the test results?
Results are typically delivered within 3 to 4 weeks.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required for this genetic test.
Who should consider taking this test?
Individuals with symptoms of limb-girdle muscular dystrophy or a family history of the disorder.
What is the accuracy of the NGS genetic test?
NGS provides high accuracy for detecting mutations in the POMK gene, but genetic counseling is recommended for interpretation.
Are there any risks associated with the test?
The risks are minimal, mainly related to blood draw, such as bruising. Psychological support is available.
How are the test results interpreted?
Results are interpreted by geneticists; pathogenic variants confirm diagnosis, while negative results may require further evaluation.
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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