Number of Panel Genes: 
8

Connective Tissue Gene Tests Chondrodysplasia punctata and related disorders NGS panel consists of eight genes for X-linked chondrodysplasia punctata (CDPX), rhizomelic chondrodysplasia punctata (RCDP), Greenberg skeletal dysplasia, CHILD syndrome and Keutel syndrome (congenital hemidysplasia with ichthyosiform erythroderma and limb defects). Common features in CDPX include punctiform calcification of bones and stippled epiphyses.read more

Tests Available

8 Panel Genes: AGPS, ARSE, EBP, GNPAT, LBR, MGP, NSDHL, PEX7
Next Generation Sequencing
$1,250
Test Code: 2024
Deletion / Duplication
$990
Test Code: 2025
NGS/Del Dup Comprehensive
$2,090
Test Code: 2026

Test Details

Technical Information
Panel Genes: 
AGPS, ARSE, EBP, GNPAT, LBR, MGP, NSDHL, PEX7
Disease Groups: 
Skeletal Dysplasias
Metabolic and Endocrine Disorders
Neurological and Muscular Disorders
MIM: 
302950
302960
600121
222765
600024
245150
308050
215100
Billing
Price: 
$1,250
CPT Codes: 
81479 x 8
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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