POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2K NGS Genetic Test
Short Name: POMT1 LGMD2K NGS Genetic Test
Also known as: LGMD2K genetic test, POMT1 gene mutation analysis, POMT1 NGS sequencing, Autosomal recessive limb-girdle muscular dystrophy type 2K DNA test
POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2K 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 from sample receipt. Complex cases with variants requiring family segregation studies may take longer.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
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 POMT1 gene, confirm a diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2K, and support medical management and reproductive decision-making. The test is intended for use in individuals with clinical features suggestive of LGMD2K, a family history of the condition, or after abnormal creatine kinase levels and muscle weakness have been noted.
- Test Code
- 4207
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt. Complex cases with variants requiring family segregation studies may take longer.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. The patient should carry a valid ID, previous clinical notes, muscle biopsy reports, and creatine kinase results if available. Genetic counselling is strongly recommended before the test. An informed consent for genetic testing must be signed.
Method: Peripheral venipuncture or blood spot on FTA card
Laboratory Analysis
Sample collection takes around 5 to 10 minutes. If blood is being drawn, a trained phlebotomist will collect 2-3 mL of blood in an EDTA tube. If using an FTA card, a drop of blood from a finger prick will be applied to the card and allowed to dry.
Report Delivery
There are no activity restrictions after sample collection. The specimen is transported to the DNA Labs India laboratory for DNA extraction, enrichment, NGS sequencing, bioinformatics analysis, and clinical interpretation. The report will be shared within 3 to 4 weeks.
Timeline: 3 to 4 weeks from sample receipt. Complex cases with variants requiring family segregation studies may take longer.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify disease-causing variants in the POMT1 gene, confirm a diagnosis of autosomal recessive limb-girdle muscular dystrophy type 2K, and support medical management and reproductive decision-making. The test is intended for use in individuals with clinical features suggestive of LGMD2K, a family history of the condition, or after abnormal creatine kinase levels and muscle weakness have been noted.
How to Prepare
- Blood sample: Collect in EDTA vacutainer
- FTA card sample: Apply one drop of blood onto the marked circle and air dry for at least 30 minutes
- All samples must be labelled clearly with patient name and unique ID
- Provide the referral form and clinical history signed by the referring physician
- Informed consent is mandatory for genetic testing
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"For families with LGMD2K, molecular confirmation is essential for reproductive counselling and prenatal options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or haemolysed blood sample
- Insufficient blood volume or inadequate FTA spots
- Mislabelled specimen or missing patient ID
- Sample without informed consent or clinical history
- Sample received in a leaking or damaged container
Understanding Your Results
No pathogenic/likely pathogenic variant detected
No disease-causing POMT1 variant identified. Other genes or non-coding variants may be responsible; further testing should be considered if clinical suspicion remains high.
One pathogenic/likely pathogenic variant detected
The individual is a carrier for POMT1-related LGMD2K. Since LGMD2K is autosomal recessive, two variants are required for disease. Variant segregation testing in family members is recommended.
Two pathogenic/likely pathogenic variants detected
Molecular diagnosis of POMT1-related limb-girdle muscular dystrophy type 2K is confirmed. Genetic counselling is recommended for family members and reproductive planning.
Variant of uncertain significance detected
A genetic variant was found, but its clinical significance is unclear. Additional variant segregation and functional studies may be required to clarify its role.
Consult a neurologist or clinical geneticist if you or a family member have unexplained proximal muscle weakness, raised creatine kinase, muscle cramps, or a known family history of limb-girdle muscular dystrophy. Genetic counselling should be sought before and after testing.
Limitations
- ⚠This targeted test may not detect deep intronic variants, large structural rearrangements, or complex duplications/deletions involving POMT1.
- ⚠A negative result does not exclude the possibility of muscular dystrophy caused by variants in other genes.
- ⚠Variants of uncertain significance may require additional family segregation studies.
- ⚠Results should always be interpreted in the context of clinical findings and muscle biopsy/CK data where available.
Risks & Considerations
- ●Physical risk is very low; venipuncture may cause minor pain, bruising, or rarely infection
- ●Genetic test results may cause psychological stress or anxiety
- ●Results may reveal carrier status in family members and have reproductive implications
- ●There is a small risk of discovery of incidental findings unrelated to the primary reason for testing
Interfering Factors
- ●Severely degraded or low-quality DNA
- ●Insufficient blood volume or FTA card sample
- ●PCR inhibitors or contamination
- ●Failure to provide clinical history and consent
- ●Somatic mosaicism or rare genetic variants not detectable by this NGS approach
Compare With Similar Tests
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| Comparison | POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2K NGS Genetic Test |
Frequently Asked Questions
What is the POMT1 gene limb-girdle muscular dystrophy type 2K?
How is LGMD type 2K inherited?
What are the common symptoms?
What is the cost of this NGS genetic test?
What sample is needed for the POMT1 NGS test?
Do I need to fast before the test?
How long will the reports take?
Why does DNA Labs India provide raw data files?
Is genetic counselling required before the test?
What does an NGS genetic test do?
Can this test be used for carrier testing in family members?
Is the POMT1 NGS test covered under insurance or government schemes?
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