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  3. Merosin-deficient congenital muscular dystrophy

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Test Merosin-deficient congenital muscular dystrophy

  • Merosin-deficient congenital muscular dystrophy
  • Info

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

Sanger sequencing - 3300lv.

Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:

MLPA - 500lv.

Description:
Multiplex ligation-dependent probe amplification
Delivery Time:
10 days
Sample:
2-5 mL Blood - Lavender Top Tube
Alternative:
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