Achondrogenesis, type II (ACG2) / Hypochondrogenesis Print

Back to All Tests
Order Test
Gene
COL2A1
MIM
200610
Clinical Description

Achondrogenesis, type II and Hypochondrogenesis

Achondrogenesis, type II (ACG2; MIM 200610) and Hypochondrogenesis (MIM 200610) are lethal conditions caused by defects in COL2A1. Although they share phenotypic characteristics, ACG2 is considered more severe. Affected fetuses and infants have a large head, soft cranium, flat face, barrel shaped trunk, and short long bones. In ACG2 the entire spine and sacrum may not be ossified. Hydrops fetalis, prematurity and death at or shortly following birth is typical of both disorders. Achondrogenesis, type IB (ACG1B; MIM 600972) phenotypically resembles ACG2 but is caused by defects in the diastrophic sulfate transporter (DTDST). In ACG1B the head is normal or near normal in size and the thorax is thin.

Available Tests
The following test(s) are available for Achondrogenesis, type II (ACG2) / Hypochondrogenesis
DNA Sequencing
Price: $1950
CPT Codes: 83890 83898 83894 83904 83912
  1 68 68 70 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
Back to All Tests
Order Test

Suggest a Test

Our list of diagnostics continues to expand to meet your needs. Please let us know if you require an additional test by completing our online Suggest a Test form.

Feedback

Comment on our website, let us know how we did on your last test or complete a brief survey. Submit your feedback now.