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All Tests Kniest dysplasia
All Tests Kniest dysplasia
Kniest dysplasia
Gene
COL2A1
MIM
156550
Clinical Description
Kniest dysplasia
Kniest dysplasia (MIM 156550) is caused by defects in COL2A1. Shortening of the trunk and limbs is evident at birth. The eyes are prominent, the nasal bridge is depressed and the face is flat and round. Patients may also have cleft palate, clubfoot and inguinal herniae. Joints enlarge through childhood. Retinal detachment and myopia represent eye findings. Hearing loss may also develop.
Available Tests
The following test(s) are available for Kniest dysplasia
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 | |
