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
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Next Generation Sequencing
Test Code: 5139
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Deletion / Duplication
Test Code: 5140
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NGS/Del Dup Comprehensive
Test Code: 5141
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Test Details
Technical Information
Panel Genes:
TRIP11, SLC26A2, COL2A1
Disease Groups:
Skeletal Dysplasias
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
5139 Turnaround Time:
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.
