CNBP DNA test

Alphabetical Test listing

CNBP DNA test-994

  
CNBP DNA test
  
994
  
LAB994
  
MSO
  
DM2
Myotonic dystrophy type 2
  

Detects CCTG repeat expansions in the Zinc Finger Protein 9 (ZNF9) gene.

Typical Presentation: Individuals with a range of symptoms from cataracts to significant muscle wasting, cardiac complications, ptosis and myotonia.

  
EDTA whole blood
  
  
8 mL
  
6 mL
  

Lavender (EDTA), 10mL

  

Ambient (preferred) - 10 days

Refrigerated - 10 days

Frozen - NO

  
  • Specimen received frozen
  
Athena Diagnostics Inc (110) via LabCorp (818037): R-NX
  
14 - 28 days
  

Repeat expansion

  

< 177 base pairs

  
05/31/2019
  
04/15/2020
  
05/18/2020