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Tests
Spinal muscular atrophy with respiratory distress, Type 1
Test Spinal muscular atrophy with respiratory distress, Type 1
Spinal muscular atrophy with respiratory distress, Type 1
Info
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
Sanger sequencing -
1700lv.
Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
MLPA -
800lv.
Description:
Multiplex ligation-dependent probe amplification
Delivery Time:
2 weeks
Sample:
2-5 mL Blood - Lavender Top Tube
Alternative:
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