Diastrophic dysplasia (DTD)

Test ID: ZH022

CPT code:
Specimen Type: EDTA
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

Test Name

AMS Laboratory

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