Contractural congenital arachnodactyly (CCA) Print

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Gene
FBN2
MIM
121050
Clinical Description

Congenital contractural arachnodactyly

Congenital contractural arachnodactyly (CCA; MIM 121050) is an autosomal dominantly inherited connective tissue disorder characterized by contractures of peripheral joints, and arachnodacdyly. Findings such as kyphoscoliosis, crumbled ear helices, high-arched palate and mitral valve prolapse are also common. Even though patients with CCA may have marfanoid habitus, they do not exhibit ectopia lentis. CCA is caused by mutations in FBN2. This gene codes for fibrillin 2, a component of microfibrils.

Available Tests
The following test(s) are available for Contractural congenital arachnodactyly (CCA)
DNA Sequencing
Price: $2310
CPT Codes: 83890 83898 83894 83904 83912
  1 70 70 76 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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