Number of Panel Genes: 
3

Achondrogenesis is a severe skeletal dysplasia that is invariably lethal before or after birth. Achondrogenesis type IA (ACG1A; MIM 200600) and IB (ACG1B; MIM 600972) are autosomal recessive disorders caused by mutations in the TRIP11 and SLC26A2 genes, respectively.read more

Tests Available

3 Panel Genes: TRIP11, SLC26A2, COL2A1
Next Generation Sequencing
$1,100
Test Code: 5139
Deletion / Duplication
$800
Test Code: 5140
NGS/Del Dup Comprehensive
$1,800
Test Code: 5141

Test Details

Technical Information
Panel Genes: 
TRIP11, SLC26A2, COL2A1
Disease Groups: 
Skeletal Dysplasias
Billing
Price: 
$1,100
CPT Codes: 
81479 x 3
Ordering
SKU:
5139
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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