Fibrodysplasia ossificans progressiva (FOP; MIM 135100) is a rare autosomal dominant disease characterized by progressive heterotopic ossification of soft connective tissues including skeletal muscle, tendons and ligaments. Individuals with FOP appear normal at birth, except for malformed great toes and thumbs. The ossification begins in early childhood and progresses over the course of a lifetime.read more

Tests Available

By gene: ACVR1
Next Generation Sequencing
$990
Test Code: 1796
Deletion / Duplication
$990
Test Code: 1797
NGS/Del Dup Comprehensive
$1,365
Test Code: 1798

Test Details

Technical Information
Genes: 
ACVR1
Disease Groups: 
Skeletal Dysplasias
MIM: 
135100
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1796
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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