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Phone Icon Phone Support:  1-800-876-0243     Mail Icon  info@amsreferencelab.com     Location Icon 2916 E. Central Wichita, KS 67214    
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Test ID: ZH022

Diastrophic dysplasia (DTD)

  • CPT Code:
  • LOINC:
  • Specimen Type: EDTA
  • Frequency:
  • Instructions: 4ml whole blood in lavender tube, ship ambient. Alt/ Fibroblasts, Extracted DNA, Saliva.
  • Text: DTD is a severe disorder characterized by marked short stature involving both the trunk and limbs, clubfoot, cleft palate, a "hitchhiker thumb" and "hitchhiker toe" deformity. DTD is non-lethal but progressive. Spinal changes and arthrosis of the hips frequently occur.
  • Methodology: Test performed at Connective Tissue Gene Test LLC, 6580 Snowdrift Road Suite 300, Allentown, Pa 18106

 

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