Acromesomelic dysplasia, Maroteaux type (AMDM; MIM 602875) is an autosomal recessive skeletal dysplasia caused by loss of function mutations in the natriuretic peptide receptor B gene (NPR2).  Birth length and weight are normal in most infants but skeletal growth falls off sharply.  By 1-2 years of age, diagnostic skeletal changes are present and consist of short and misshapen bones of the limbs and spine, and abnormal growth plates.  Adultread more

Tests Available

By gene: NPR2
Sanger Sequencing
$1,390
Test Code: 1010
Deletion / Duplication
$680
Test Code: 1011
Sanger/Del Dup Comprehensive
$1,970
Test Code: 1447

Test Details

Technical Information
Genes: 
NPR2
Disease Groups: 
Skeletal Dysplasias
MIM: 
602875
Billing
Price: 
$1,390
CPT Codes: 
81479 x 1
Ordering
SKU:
1010
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.

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