The PTH1R gene encodes a parathyroid hormone / parathyroid hormone-related peptide receptor (PTH / PTHRP). Mutations in PTH1R can cause Chondrodysplasia, Blomstrand type (BOCD; MIM 215045), Eiken syndrome (MIM 600002), Failure of tooth eruption, primary (PFE; MIM 125350) and Metaphyseal chondrodysplasia, Jansen type (MIM 156400). 

read more

Tests Available

By gene: PTH1R
Next Generation Sequencing
$990
Test Code: 2041
Deletion / Duplication
$990
Test Code: 2042
NGS/Del Dup Comprehensive
$1,365
Test Code: 2043

Related Panels
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $1,620
Del Dup $990
Comp $1,995
Skeletal dysplasia extended NGS panel (19 genes)
NGS $1,320
Del Dup $990
Comp $1,695

Test Details

Technical Information
Genes: 
PTH1R
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
MIM: 
125350
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
2041
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.

Search Tests

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