TRPV4 related skeletal disorders - Heterozygous mutations in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4) have been shown to be responsible for spondyloepiphyseal dysplasia, Maroteaux type (MIM 184095), brachyolmia type 3 (MIM 113500), spondylometaphyseal dysplasia, Kozlowski type (SMDK; MIM 184252), metatropic dysplasia (MIM 156530), parastremmatic dwarfismread more

Tests Available

By gene: TRPV4
Sanger Sequencing
$850
Test Code: 1306
Deletion / Duplication
$950
Test Code: 1772
Sanger/Del Dup Comprehensive
$1,650
Test Code: 1773

Related Panels
Skeletal dysplasia core & extended NGS panel
NGS $3,790
Del Dup $3,450
Comp $7,040
Skeletal dysplasia extended NGS panel
NGS $2,770
Del Dup $2,900
Comp $5,470

Test Details

Technical Information
Genes: 
TRPV4
Disease Groups: 
Neurological and Muscular Disorders
MIM: 
600175
Billing
Price: 
$850
CPT Codes: 
81479 x 1
Ordering
SKU:
1306
Turnaround Time: 
Typically 1 to 2 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.

Search Tests

TIP: enter a partial disorder name or gene to widen your search