Detects deletions and duplications in the gene associated with Schwartz-Jampel syndrome, a rare genetic disorder…. This lab test includes home sample collection via a provided kit or by a clinician, and you’ll receive a comprehensive physical health report with your results.
Schwartz-Jampel syndrome (Deletion/Duplica- tion)(Centogene,Germany)
Detects deletions and duplications in the gene associated with Schwartz-Jampel syndrome, a rare genetic disorder.
110,565 THB
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Lab Categories : All Ages, EDTA Whole Blood, Gene Sequencing, Joint Problems, Lab Test, Muscle Stiffness, None, Schwartz-Jampel Syndrome
Diseases : Schwartz-Jampel Syndrome
Symptoms : Joint Problems, Muscle Stiffness
Habits : None
Age Groups : All Ages
Specimens : EDTA Whole Blood
Diagnostic Methods : Gene Sequencing
| Also Known As | Schwartz-Jampel Genetic Test, Schwartz-Jampel Deletion/Duplication Test, GNE Gene Sequencing |
|---|---|
| Specimen | 2 mL EDTA blood |
| Turnaround Time | 29 days |
| Test Code | MD-NLB061 |
| Test Type | Special |
| Related Tests | Genetic Disorder Panel |
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