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PFKM Gene Glycogen storage disease type 7 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PFKM Gene Glycogen storage disease type 7 NGS Genetic Test

Short Name: PFKM GSD Type 7 NGS Test

Also known as: Tarui Disease, Muscle Phosphofructokinase Deficiency, GSD Type VII, Glycogen Storage Disease Type VII, PFKM Deficiency

PFKM Gene Glycogen storage disease type 7 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Pipeline Analysis, ACMG Variant Classification on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from sample collection. You will be notified via your preferred delivery method (Online Portal, Email, or WhatsApp) once the report is ready.. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS) Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The primary purpose of the PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic Test is to identify pathogenic mutations in the PFKM gene that cause Tarui disease. This test serves multiple clinical purposes including definitive molecular diagnosis of suspected GSD VII, differentiation from other glycogen storage diseases and metabolic myopathies, carrier testing for family members of affected individuals, prenatal and preconception genetic counseling, genotype-phenotype correlation to predict disease severity, and informing personalized management strategies. By providing a comprehensive analysis of the PFKM gene through NGS technology, this test enables clinicians and families to make informed medical and reproductive decisions.

Test Code
2039
CPT Code
81405
ICD Code
E74.09
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks from sample collection. You will be notified via your preferred delivery method (Online Portal, Email, or WhatsApp) once the report is ready.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Pipeline Analysis, ACMG Variant Classification
Step 1

Sample Collection

No special preparation such as fasting is required. A Genetic Counselling session to draw a pedigree chart of family members affected with Glycogen Storage Disease Type 7 is recommended prior to testing. Please provide the complete clinical history of the patient. Ensure that the patient has not received a blood transfusion within the last 30 days.

Method: Venipuncture / Finger Prick (FTA Card)

Step 2

Laboratory Analysis

A peripheral blood sample of 3-5 mL will be collected via venipuncture into an EDTA (Lavender Top) vacutainer. Alternatively, one drop of blood can be collected on an FTA card. The collection procedure is similar to a routine blood draw and typically takes less than 5 minutes.

Step 3

Report Delivery

Apply pressure to the puncture site for 2-3 minutes to prevent bruising. The sample will be transported under appropriate temperature conditions to the DNA Labs India laboratory for processing. No post-collection restrictions are necessary.

Timeline: Results are typically available within 3 to 4 weeks from sample collection. You will be notified via your preferred delivery method (Online Portal, Email, or WhatsApp) once the report is ready.

Patient Instructions

1
Before the Test:No fasting is required. A pre-test Genetic Counselling session is recommended to document family history and construct a pedigree chart of family members affected with Glycogen Storage Disease Type 7. Provide complete clinical history of the patient, including symptoms, prior diagnoses, medications, and any previous genetic test results.
2
During the Test:A 3-5 mL peripheral blood sample will be collected via venipuncture into an EDTA vacutainer tube, or one drop of blood may be collected on an FTA card. The collection process is quick, minimally invasive, and similar to a standard blood draw. The sample is then labeled and transported to the laboratory for DNA extraction and NGS analysis.
3
After the Test:After sample collection, apply gentle pressure to the puncture site. No specific post-collection restrictions are required. The sample undergoes DNA extraction, library preparation, NGS sequencing, bioinformatics analysis, and variant classification. Results are typically available within 3 to 4 weeks and will be delivered via online portal, email, or WhatsApp. A post-test genetic counseling session is recommended to review and understand the results.

About This Test

Who Should Get This Test

The primary purpose of the PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic Test is to identify pathogenic mutations in the PFKM gene that cause Tarui disease. This test serves multiple clinical purposes including definitive molecular diagnosis of suspected GSD VII, differentiation from other glycogen storage diseases and metabolic myopathies, carrier testing for family members of affected individuals, prenatal and preconception genetic counseling, genotype-phenotype correlation to predict disease severity, and informing personalized management strategies. By providing a comprehensive analysis of the PFKM gene through NGS technology, this test enables clinicians and families to make informed medical and reproductive decisions.

How to Prepare

  • Collect 3-5 mL peripheral blood in an EDTA (Lavender Top) vacutainer or use an FTA card with one drop of blood
  • Ensure proper patient identification and labeling of the sample
  • Do not collect within 30 days of a blood transfusion
  • Transport the sample at ambient room temperature to the laboratory
  • No fasting is required prior to sample collection
  • Provide complete clinical history and family pedigree information along with the sample

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Glycogen Storage Disease Type 7 is frequently underdiagnosed due to its rarity and symptom overlap with other metabolic myopathies. NGS-based genetic testing of the PFKM gene offers the most definitive diagnostic approach, enabling targeted management strategies including dietary modifications and exercise regimens. I recommend this test for any patient presenting with exertional myalgia, exercise intolerance, and elevated creatine kinase levels where a glycogen storage disorder is suspected. Early molecular diagnosis significantly improves patient outcomes and allows for informed genetic counseling for affected families."

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 peripheral blood
ContainerEDTA (Lavender Top) Vacutainer or FTA Card
Collection MethodVenipuncture / Finger Prick (FTA Card)

Sample Stability

EDTA blood: Stable for up to 7 days at ambient room temperature (15-25°C)
FTA Card: Stable for several months at room temperature when stored properly
Extracted DNA: Stable for up to 6 months at -20°C
Sample Rejection Criteria:
  • Sample collected in incorrect anticoagulant (non-EDTA tube)
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume (less than 2 mL)
  • Sample without proper labeling or identification
  • Sample collected within 30 days of blood transfusion
  • Sample received in compromised or leaking container

Understanding Your Results

The results of the PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic Test should be interpreted by a qualified clinical geneticist or physician with expertise in metabolic disorders. A positive result identifying pathogenic or likely pathogenic variants in the PFKM gene, particularly in a homozygous or compound heterozygous state, confirms a molecular diagnosis of Glycogen Storage Disease Type 7 (Tarui disease). The detection of only one pathogenic variant suggests carrier status. A negative result in the presence of strong clinical suspicion does not fully exclude the diagnosis, as other genetic mechanisms or genes may be involved. Variants of Uncertain Significance (VUS) require clinical correlation, family segregation studies, and may be reclassified as more data becomes available.
📊

Homozygous pathogenic variants in PFKM gene

High

📊

Compound heterozygous pathogenic variants in PFKM gene

High

📊

Single heterozygous pathogenic variant in PFKM gene

Moderate

📊

No pathogenic variants detected

Low to Moderate

📊

Variant of Uncertain Significance (VUS) detected

Uncertain

⚠️ When to Consult a Doctor:

Consult your doctor if you or your child experiences unexplained muscle pain, cramping, or weakness during exercise, fatigue, difficulty with physical activities such as running or climbing stairs, delayed growth and development, or if routine blood tests reveal elevated creatine kinase levels. If you have a family history of Glycogen Storage Disease Type 7 or Tarui disease, consult a genetic counselor before and after testing. After receiving test results, consult your physician or a clinical geneticist to understand the implications and develop an appropriate management plan.

Limitations

  • ⚠This test detects sequence-level variants in the PFKM gene but may not identify large deletions, duplications, or deep intronic mutations
  • ⚠Variants of Uncertain Significance (VUS) may be identified and may require further investigation or family studies
  • ⚠A negative result does not completely exclude GSD VII if caused by variants in regulatory regions or non-coding areas not covered by this test
  • ⚠This test is not a substitute for biochemical enzyme activity assays when clinically indicated
  • ⚠Results should always be interpreted in conjunction with clinical findings, family history, and other laboratory data by a qualified healthcare professional

Risks & Considerations

  • ●Minor bruising or discomfort at the venipuncture site
  • ●Very rare risk of infection at the needle insertion site
  • ●Psychological impact of genetic test results on the patient and family members
  • ●Potential identification of Variants of Uncertain Significance (VUS) that may cause anxiety without definitive clinical guidance

Interfering Factors

  • ●Degraded or insufficient DNA quality may affect sequencing accuracy
  • ●Recent blood transfusion within the past 30 days may lead to mixed DNA profiles
  • ●Contamination of the sample during collection or transport
  • ●Presence of large genomic rearrangements not detectable by standard NGS panels
  • ●Mosaicism at low levels may not be detected by the sequencing depth employed

Compare With Similar Tests

TestPFKM Gene Glycogen storage disease type 7 NGS Genetic TestPFKM Gene NGS Genetic TestPFKM Enzyme Activity AssaySanger Sequencing of PFKM GeneMuscle Biopsy with HistopathologySerum Creatine Kinase (CK) Test
ComparisonPFKM Gene Glycogen storage disease type 7 NGS Genetic Test

Frequently Asked Questions

What is Glycogen Storage Disease Type 7 (Tarui disease)?
Glycogen Storage Disease Type 7, also known as Tarui disease, is a rare inherited metabolic disorder caused by mutations in the PFKM gene. This gene provides instructions for making the muscle isoform of phosphofructokinase, an enzyme essential for glycogen breakdown in muscle cells. When this enzyme is deficient or non-functional, glycogen accumulates in muscles, leading to symptoms such as muscle weakness, cramping during exercise, fatigue, and in some cases, delayed growth and enlarged liver and spleen.
What causes GSD Type 7 at the genetic level?
GSD Type 7 is caused by mutations in the PFKM gene located on chromosome 12 (12q13.11). This gene encodes the muscle-type phosphofructokinase enzyme. The condition follows an autosomal recessive inheritance pattern, meaning an affected individual inherits one mutated copy of the gene from each parent. Parents who are carriers typically have one normal and one mutated copy and usually do not show symptoms.
What are the common symptoms of Tarui disease?
Common symptoms include muscle weakness and cramping, pain in muscles during physical exercise, fatigue, difficulty running or climbing stairs, exercise intolerance, and in severe cases, delayed growth and development, and enlarged liver (hepatomegaly) and spleen (splenomegaly). Some patients may also experience hemolytic anemia and elevated creatine kinase levels in the blood.
How is Glycogen Storage Disease Type 7 diagnosed?
Diagnosis typically involves a combination of clinical examination, blood tests measuring creatine kinase and other metabolic markers, muscle biopsy showing glycogen accumulation and absent phosphofructokinase activity, and genetic testing. The PFKM Gene NGS Genetic Test provides definitive molecular diagnosis by identifying causative mutations in the PFKM gene.
What is NGS Genetic Testing and how does it work?
NGS (Next-Generation Sequencing) is an advanced genetic testing technology that can simultaneously sequence millions of DNA fragments. For the PFKM Gene test, NGS analyzes the entire coding region and flanking intronic sequences of the PFKM gene to identify mutations. It is highly accurate, with analytical sensitivity exceeding 99%, and can detect point mutations, small insertions, deletions, and splice-site variants that cause GSD Type 7.
What sample is required for the PFKM Gene NGS Genetic Test?
The test requires a blood sample (3-5 mL) collected in an EDTA vacutainer (lavender top tube), or a drop of blood on an FTA card. Alternatively, previously extracted DNA can also be used. No fasting is required before sample collection.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks from the date of sample collection. The report will be delivered through your preferred method: Online Portal, Email, or WhatsApp. Raw Data, FASTQ, and VCF files will be provided along with the clinical test report.
What is the cost of the PFKM Gene NGS Genetic Test?
The cost of the PFKM Gene Glycogen Storage Disease Type 7 NGS Genetic Test at DNA Labs India is INR 20,000. This price includes home sample collection (free for online bookings), NGS sequencing, bioinformatics analysis, variant classification, clinical test report, and raw data files (FASTQ and VCF formats).
Can this test identify carriers of GSD Type 7?
Yes, the PFKM Gene NGS Genetic Test can identify carriers (heterozygous individuals) who have one mutated copy of the PFKM gene. Carriers are typically asymptomatic but can pass the mutation to their children. Carrier testing is particularly important for family planning and genetic counseling in families with a history of GSD VII.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the PFKM Gene NGS Genetic Test when booked online. Home collection services are available across numerous cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more. A trained phlebotomist will visit your location to collect the sample.
What should I do after receiving the test results?
After receiving your results, schedule a consultation with your physician or a clinical geneticist to discuss the findings. If pathogenic variants are identified, your doctor will recommend an appropriate management plan including dietary modifications, exercise guidance, and monitoring. Genetic counseling is recommended to understand implications for family members and future generations. DNA Labs India provides genetic counseling as part of the testing service.
What files and data will I receive with the test report?
DNA Labs India is the only lab that provides complete transparency with your genetic test results. Along with the conclusive clinical test report, you will receive Raw Data files, FASTQ files (raw sequencing reads), and VCF files (variant call format listing detected variants). These files allow you or your healthcare provider to independently review and analyze the sequencing data if desired.
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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