Test Merosin-deficient congenital muscular dystrophy
Description
- Merosin-deficient congenital muscular dystrophy is an autosomal recessive form of muscular dystrophy characterized by muscle weakness apparent at birth or in the first 6 months of life. Patients show hypotonia and delayed motor development; most never achieve independent ambulation.
- Genes:
- LAMA2
- Disorders:
- Muscular Dystrophy
- Clinical Utility:
- Confirmation of a clinical diagnosis, 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:
- 10 days
- Sample:
- 2-5 mL Blood - Lavender Top Tube
- Alternative:
- Ops!
- No files are available!