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Diagnostic options Β· UAE

Congenital Myasthenia tests in Dubai & UAE

Compare available Congenital Myasthenia tests, their listed prices and the information provided for each option. Test selection and preparation should be discussed with your clinician.

Tests in this category

1

Listed price range

2,800.00 AED

Clinical preparation

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Congenital Myasthenia test prices

Showing 1–1 of 1 matching tests.

Congenital Myasthenia diagnostic tests, details, and listed prices
Test and description Specimen Typical duration Price Options
TEST-5285
GFPT1 Gene Congenital Myasthenic Syndrome with Tubular Aggregates Type 1 (CMS1B) Genetic Test

This genetic test identifies pathogenic variants in the GFPT1 gene associated with Congenital Myasthenic Syndrome Type 1B (CMS1B). It helps confirm the diagnosis and guide appropri...

Whole Blood (EDTA tube), Extracted DNA, or FTA Card 3–4 Weeks 2,800.00 AED
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View test specifications and preparation
What it measures
["Pathogenic variants in the GFPT1 gene", "Single nucleotide variants", "Small insertions and deletions", "Copy number alterations"]
Parameters
[]
Preparation
["Genetic counselling session required before sample collection", "Completed requisition and signed informed consent required"]
Indications
["Suspected congenital myasthenic syndrome", "Family members of affected individuals for carrier testing", "Reproductive planning"]
Measurement technique
Confirm with laboratory
Codes
LOINC: 81479-4 ICD-10: G70.2
Clinical summary
This genetic test identifies pathogenic variants in the GFPT1 gene associated with Congenital Myasthenic Syndrome Type 1B (CMS1B). It helps confirm the diagnosis and guide appropriate neurological management.

Category overview

Congenital Myasthenia: overview

Confronting profound muscle weakness, severe fatigue, or drooping eyelids that are present from birth requires incredibly precise diagnostics to distinguish genetic conditions from autoimmune diseases. As an advanced subspecialty within our neurogenetics department, Congenital Myasthenia testing meticulously evaluates your DNA for inherited mutations that disrupt the communication signals between your nerves and muscles. By leveraging cutting-edge diagnostic technology, this highly focused screening helps confirm Congenital Myasthenic Syndromes (CMS), providing the definitive data needed to safely guide highly personalized, targeted pharmacological treatments and specialized pediatric neurology care. Highly regarded for clinical excellence among premier diagnostic labs in Dubai and the UAE, DNA Labs guarantees strict patient confidentiality, uncompromising diagnostic accuracy, and highly efficient turnaround times. Take control of your neuromuscular healthβ€”book your congenital myasthenia testing in UAE, arrange a secure clinical sample collection, or consult our dedicated neurogenetics team today.

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The right diagnostic option depends on your reason for testing and individual circumstances. Check the listed specimen and timing, then confirm any preparation requirements with the ordering clinician or laboratory before collection.