The Chondrodysplasia punctata and related disorders NGS panel consists of ten genes for X-linked chondrodysplasia punctata (CDPX), rhizomelic chondrodysplasia punctata (RCDP), peroxisomal fatty acyl-CoA reductase 1 disorder (PFCRD), Greenberg skeletal dysplasia (GRBGD), CHILD syndrome and Keutel syndrome (KTLS). Common features in CDPX include punctiform calcification of bones and stippled epiphyses.read more
Tests Available
By gene: ARSE
Next Generation Sequencing
$900
Test Code: 2018
|
Deletion / Duplication
$900
Test Code: 2019
|
NGS/Del Dup Comprehensive
$1,100
Test Code: 2020
|
Test Details
Technical Information
Genes:
ARSE
Disease Groups:
Skeletal Dysplasias
MIM:
302950
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
2018 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.