Number of Panel Genes: 
10

Connective Tissue Gene Tests offers three options for skeletal dysplasia testing utilizing NextGen sequencing technology. The core skeletal dysplasia panel is designed to detect mutations in genes responsible for lethal or severe skeletal dysplasias that occur with a high incidence. The extended skeletal dysplasia panel contains genes linked to disorders that are also phenotypically severe but occur less frequently. These two panels may also be ordered as a single combined panel.read more

Tests Available

10 Panel Genes: ALPL, COL1A1, COL1A2, COL2A1, FGFR3, INPPL1, NKX3-2, SLC26A2, SOX9, TRIP11
Next Generation Sequencing
$1,390
Test Code: 5115
Deletion / Duplication
$990
Test Code: 5116
NGS/Del Dup Comprehensive
$2,230
Test Code: 5117

Test Details

Technical Information
Panel Genes: 
ALPL, COL1A1, COL1A2, COL2A1, FGFR3, INPPL1, NKX3-2, SLC26A2, SOX9, TRIP11
Disease Groups: 
Skeletal Dysplasias
MIM: 
146300
241510
241500
166200
166210
259420
166220
200610
151210
183900
100800
146000
187600
187601
258480
613330
600972
256050
222600
114290
200600
616482
Billing
Price: 
$1,390
CPT Codes: 
81479 x 8
81408 x 2
Ordering
SKU:
5115
Turnaround Time: 
Typically 3 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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