Osteopetrosis is a disorder of increased bone density due to defects in bone resorption. Several different forms are recognized and mutations in several genes have been described.read more

Tests Available

By gene: PLEKHM1
Next Generation Sequencing
$990
Test Code: 1250
Deletion / Duplication
$990
Test Code: 2447
NGS/Del Dup Comprehensive
$1,365
Test Code: 2448

Related Panels
Osteopetrosis NGS panel (14 genes)
NGS $1,420
Del Dup $990
Comp $1,795
Osteopetrosis and Dense bone dysplasia NGS panel (28 genes)
NGS $1,620
Del Dup $990
Comp $1,995

Test Details

Technical Information
Genes: 
PLEKHM1
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
MIM: 
611497
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1250
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.

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