Skip to main content
DNA Labs India

RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency NGS Genetic Test

Short Name: RBCK1 PGBM1 NGS Test

Also known as: RBCK1-Related Myopathy, Polyglucosan Body Myopathy Type 1, PGBM1, Myopathy due to RBCK1 Variant

RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency 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 Clinical report is typically available within 3 to 4 weeks from the date the sample is received by the laboratory.. Free home collection in 300+ cities across India.

Genetic Confirmation🏠 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

To confirm a clinical diagnosis of RBCK1-associated polyglucosan body myopathy type 1, to identify pathogenic variants in the RBCK1 gene, to provide genetic information for family risk assessment, to guide surveillance and management, and to differentiate overlapping neuromuscular phenotypes.

Test Code
4466
CPT Code
81479
ICD Code
Not applicable
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Clinical report is typically available within 3 to 4 weeks from the date the sample is received by the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Fasting is not required. Continue regular medications unless advised otherwise by your doctor. Please bring any previous muscle biopsy reports, creatine kinase reports, and a drawing of the family pedigree if available. A genetic counseling session will be arranged to document the family history.

Method: Peripheral blood collection or FTA card blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small volume of blood from a vein. If an FTA card is requested, one drop of blood is placed on the card and allowed to air dry.

Step 3

Report Delivery

You can resume normal activities immediately. Keep the collection site clean and apply light pressure if bleeding occurs. The report will be shared online and raw data files will be available with the clinical report.

Timeline: Clinical report is typically available within 3 to 4 weeks from the date the sample is received by the laboratory.

Patient Instructions

1
Before the Test:Fasting is not required. A genetic counseling session will be arranged to draw the family pedigree and document affected individuals. Patients should bring previous medical records, including any muscle biopsy or electrophysiology findings.
2
During the Test:No special patient measures are required during the test. In the laboratory, NGS library preparation, sequencing, and bioinformatics analysis will be performed.
3
After the Test:The clinical report will be sent to the ordering physician. The patient and family should review results with a genetic counselor or clinical geneticist for discussion of management, surveillance, and reproductive risks.

About This Test

Who Should Get This Test

To confirm a clinical diagnosis of RBCK1-associated polyglucosan body myopathy type 1, to identify pathogenic variants in the RBCK1 gene, to provide genetic information for family risk assessment, to guide surveillance and management, and to differentiate overlapping neuromuscular phenotypes.

How to Prepare

  • Fasting is not required for this test
  • Use a lavender-top EDTA tube for whole blood
  • Adult sample: 5 ml whole blood; pediatric: 2 ml whole blood
  • For FTA card: one drop of blood applied to the card and air-dried completely
  • For extracted DNA: provide 3-5 microgram DNA with OD260/280 ratio between 1.8 and 2.0

Doctor's Notes

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

"Testing should be ordered after clinical evaluation by a neurologist or immunologist. Results require specialized interpretation in the context of clinical presentation and family history."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml whole blood or 3-5 microgram DNA
ContainerEDTA tube, DNA vial, or FTA card
Collection MethodPeripheral blood collection or FTA card blood spot

Sample Stability

Whole blood at 2-8 degree Celsius: 72 hours
Extracted DNA at -20 degree Celsius: several months
Dried FTA card at room temperature: 1 year
Sample Rejection Criteria:
  • Clotted, hemolyzed, or visibly contaminated blood samples
  • Insufficient blood or DNA quantity
  • FTA card samples that are wet or improperly stored
  • Mislabeled or unaccompanied samples

Understanding Your Results

This test identifies variants in the RBCK1 gene. Variants are classified according to ACMG guidelines. The interpretation must be integrated with clinical findings and family history. Raw sequencing data allows independent review by the referring clinician.
📊

Supports a diagnosis of polyglucosan body myopathy type 1 with or without immunodeficiency. Clinical correlation and family testing are recommended.

📊

Insufficient evidence to classify as disease-causing or benign. Additional family studies or functional studies may be needed.

📊

RBCK1-related disease is not confirmed. Other genetic causes of myopathy or immunodeficiency may be considered.

📊

Not considered causative of the symptoms.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, neurologist, or immunologist if a child or adult has unexplained progressive muscle weakness, repeated infections, difficulty breathing or swallowing, cardiomyopathy of unknown cause, or a family history of RBCK1-related disease.

Limitations

  • ⚠NGS may not detect large exonic deletions, duplications, or rearrangements without separate read-depth analysis
  • ⚠Deep intronic variants, promoter variants, and repeat expansions are usually not covered
  • ⚠Variant classification can be updated as new clinical data become available
  • ⚠Negative findings do not exclude a clinical diagnosis and may require further testing
  • ⚠Genetic and clinical counseling must accompany test interpretation

Risks & Considerations

  • ●Minor pain, bruising, or bleeding at the blood draw site
  • ●Rarely, dizziness or fainting during blood collection
  • ●Psychological impact of discovering a genetic condition or carrier status

Interfering Factors

  • ●Morbid obesity or very low white blood cell count may affect DNA yield
  • ●Recent haematopoietic stem cell transplantation can confuse genetic analysis
  • ●Sample contamination during collection can inhibit NGS
  • ●Hematological malignancies with clonal haematopoiesis may complicate interpretation

Compare With Similar Tests

TestRBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency NGS Genetic Test
ComparisonRBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency NGS Genetic Test

Frequently Asked Questions

What is the cost of the RBCK1 gene NGS genetic test?
The test costs Rs 20000.0 (INR 20,000) across India. Home sample collection is offered free for online bookings.
What sample is required for the RBCK1 NGS test?
The test can be done on 5 ml whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card.
How long does the test take?
The clinical report is usually delivered within 3 to 4 weeks from the date of sample receipt.
Is genetic counseling necessary before this test?
Yes. A genetic counseling session is arranged to draw the family pedigree and document any affected family members before testing.
What is polyglucosan body myopathy type 1?
It is a rare inherited condition caused by mutations in the RBCK1 gene, leading to accumulation of glycogen-like polyglucosan bodies in muscles and sometimes causing immunodeficiency, cardiomyopathy, or neurological symptoms.
Does this NGS test detect all possible mutations in RBCK1?
NGS detects single nucleotide variants and small insertions/deletions in the coding exons and splice sites. Large deletions, deep intronic changes, and repeat expansions may not be reliably detected without additional testing.
Will I receive raw data files with my report?
Yes. DNA Labs India shares FASTQ and VCF raw data files along with the conclusive clinical report for full transparency.
Who should undergo this test?
Individuals with unexplained muscle weakness, fatigue, elevated creatine kinase, cardiomyopathy, recurrent infections, or a family history of polyglucosan body myopathy should consider this test after clinical evaluation.
How are variants in the RBCK1 gene interpreted?
Variants are classified according to ACMG guidelines as pathogenic, likely pathogenic, uncertain significance, likely benign, or benign. The clinical report explains the significance in context.
Can this test be used for prenatal diagnosis?
Prenatal testing is possible only when the familial pathogenic variant has been identified and the laboratory is contacted before pregnancy for validation. Genetic counseling and pre-authorization are required.
Is the RBCK1 NGS test covered by insurance?
Coverage depends on the insurance provider and the individual policy. Some private insurers may cover part or all of the cost if ordered by a specialist as medically necessary.
What is the difference between a targeted RBCK1 test and a neuromuscular gene panel?
A targeted RBCK1 test is focused only on the RBCK1 gene, making it more cost-effective and quicker. A neuromuscular panel tests multiple genes at once and may identify other causes of similar symptoms.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.