Atelosteogenesis, type II (AOII) Print

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Gene
DTDST
MIM
256050
Clinical Description

Atelosteogenesis type II

Atelosteogenesis, type II (AOII; MIM 256050) is a disorder caused by mutations in the diastrophic dysplasia sulfate transporter gene (DTDST/SLC26A2). AOII is invariably lethal with survival measured in months. AOII is characterized by severe micromelia, spinal abnormalities, talipes equinovarus and abducted thumbs and toes. It is also known as neonatal osseous dysplasia I. AOII phenotypically occupies an intermediate position between achondrogenesis, type 1B (ACG1B; MIM 600972) and diastrophic dysplasia (DTD; MIM 222600), two other disorders caused by mutations in DTDST.

Available Tests
The following test(s) are available for Atelosteogenesis, type II (AOII)
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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