Number of Panel Genes: 
10

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

10 Panel Genes: AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7
Next Generation Sequencing
$1,370
Test Code: 2024
Deletion / Duplication
$990
Test Code: 2025
NGS/Del Dup Comprehensive
$2,210
Test Code: 2026

Test Details

Technical Information
Panel Genes: 
AGPS, ARSE, EBP, FAR1, GNPAT, LBR, MGP, NSDHL, PEX5, PEX7
Disease Groups: 
Skeletal Dysplasias
Metabolic and Endocrine Disorders
Neurological and Muscular Disorders
MIM: 
302950
302960
600121
222765
600024
245150
308050
215100
Billing
Price: 
$1,370
CPT Codes: 
81479 x 10
Ordering
SKU:
2024
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.

Related Panels
Skeletal dysplasia extended NGS panel (19 genes)
NGS $1,490
Del Dup $1,150
Comp $2,490
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $1,840
Del Dup $1,300
Comp $2,990

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