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Schwartz-Jampel syndrome (Full gene sequenc- ing)(Centogene,Germany)

฿273,429.00

Additional information

Also Known As

Schwartz-Jampel Genetic Test, Full Gene Sequencing
Specimen

2 mL EDTA blood
Turnaround Time

22 days
Test Code

MD-NLB062
Test Type

Special
Related Tests

Muscular Dystrophy Panel, Neuromuscular Gene Test
Product tags: Cramps, Full Gene Sequencing, Genetic Disorders, Muscle Stiffness, Muscular Disorders, None, Schwartz-Jampel Genetic Test, Weakness
Diseases: Genetic Disorders, Muscular Disorders
Symptoms: Cramps, Muscle Stiffness, Weakness
Habits: None
Age Groups: Adults, Pediatrics
Specimens: EDTA Blood
Diagnostic Methods: Gene Sequencing

Description

Full gene sequencing to detect mutations in the HSPG2 gene associated with Schwartz-Jampel syndrome, a rare disorder affecting muscle development.

Additional information

Also Known As

Schwartz-Jampel Genetic Test, Full Gene Sequencing
Specimen

2 mL EDTA blood
Turnaround Time

22 days
Test Code

MD-NLB062
Test Type

Special
Related Tests

Muscular Dystrophy Panel, Neuromuscular Gene Test

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