Diastrophic dysplasia (DTD) Print

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Gene
DTDST
MIM
222600
Clinical Description

Diastrophic dysplasia

Diastrophic dysplasia (DTD; MIM 222600) as well as achondrogenesis type IB (ACG1B; MIM 600972), atelosteogenesis type II (AO2; MIM 256050) and autosomal recessive form of multiple epiphyseal dysplasia (EDM4; MIM 226900) are caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST/SLC26A2) gene. 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.

Available Tests
The following test(s) are available for Diastrophic dysplasia (DTD)
DNA Sequencing
Price: $970
CPT Codes: 83890 83898 83894 83904 83912
  1 8 8 12 1
Deletion / Duplication Analysis - High-Density Targeted Array

Explanation of pricing:
The First Gene price and CPT codes below are for the first gene tested by HDT Array on a particular specimen.  The Additional Gene(s) price and CPT codes are for any subsequent gene(s) tested by HDT Array on the same specimen.

First Gene:
Price: $1,190
CPT Codes: 83890 83892 83894 88386 83912
  1 2 1 4 1
Additional Gene(s):
Price: $590
CPT Codes: 83890 83892 83894 88386 83912
  NA NA NA 4 1
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