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| Test Name: | SMN1 & SMN2 Gene Deletion Detection |
| Compliance: | LDT |
| Test Description: | SMA is a neuromuscular disease characterized by symmetric proximal muscle weakness due to degeneration of the anterior horn cells of the spinal cord. About 95% of SMA are caused by homozygous mutations of the survival motor neuron 1 (SMN1) gene (5q13) lead functional absence of this gene due to deletion or its conversion to SMN2. |
| Methodology: | Deletion analysis of SMN1 and SMN2 genes |
| Gene Name: | SMN1, SMN2 |
| Protein Name: | |
| Specimen Requirements: | EDTA Blood (5mL) |
| Storage Condition: | Ambient Temperature / 4℃ (if overnight is needed) |
| Turn Around Time: | 5 working days from day of specimen received |
| OMIM: | |
| Genetic Home Reference: | |
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Copyright © 2013 香港分子病理檢驗中心 Hong Kong Molecular Pathology Diagnostic Centre Limited (HKMPDC). All Rights Reserved.
Information Updated 1 July, 2023.
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