Test Spinal muscular atrophy with respiratory distress, Type 1
Description
- SMARD1 is caused by homozygous or compound heterozygous mutation in the IGHMBP2 gene.
- Genes:
- IGHMBP2
- Disorders:
- Muscle Atrophy
- Clinical Utility:
- Carrier testing in unaffected family members
Methods
- Description:
- Delivery Time:
- 10 days
- Sample:
- 2-5 Ml Venous Blood Sample / DNA sample
- Alternative:
- Description:
- Multiplex ligation-dependent probe amplification
- Delivery Time:
- 2 weeks
- Sample:
- 2-5 mL Blood - Lavender Top Tube
- Alternative:
- Ops!
- No files are available!