Number of Panel Genes: 
29

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

29 Panel Genes: ALPL, ARSE, COL1A1, COL1A2, COL2A1, COL10A1, COL11A1, COL11A2, DDR2, EBP, FGFR3, INPPL1, NKX3-2, FLNB, HSPG2, LBR, LIFR, MMP9, MMP13, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4
Next Generation Sequencing
$1,840
Test Code: 5118
HDT Array test is not available for SBDS
Deletion / Duplication
$1,300
Test Code: 5119
HDT Array test is not available for SBDS
NGS/Del Dup Comprehensive
$2,990
Test Code: 5120
HDT Array test is not available for SBDS

Test Details

Technical Information
Panel Genes: 
ALPL, ARSE, COL1A1, COL1A2, COL2A1, COL10A1, COL11A1, COL11A2, DDR2, EBP, FGFR3, INPPL1, NKX3-2, FLNB, HSPG2, LBR, LIFR, MMP9, MMP13, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TRIP11, TRPV4
Test Note: 
HDT Array test is not available for SBDS
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
302950
156500
228520
614524
271665
302960
108720
108721
112310
224410
255800
215140
601559
613073
602111
308050
215100
156400
215045
607095
250250
250460
260400
269250
156530
168400
616482
Billing
Price: 
$1,840
CPT Codes: 
81479 x 27
81408 x 2
Ordering
SKU:
5118
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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