Myhre syndrome (MYHRS; MIM 139210) is a rare, autosomal dominant developmental disorder associated with advanced paternal age.read more

Tests Available

By gene: SMAD4
Sanger Sequencing
Option 1: Full gene
$790
Test Code: 1414
Sanger Sequencing
Option 2: Exon 12 only
$350
Test Code: 1415
Sanger Sequencing
Option 3: Reflex to remaining exons
$670
Test Code: 1416

Test Details

Technical Information
Genes: 
SMAD4
Disease Groups: 
Skeletal Dysplasias
MIM: 
139210
Billing
Price: 
$790
CPT Codes: 
81406 x 1
Ordering
SKU:
1414
Test Option: 
Full gene
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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