Geleophysic dysplasia 1, geleophysic dysplasia 2 and acromicric dysplasia - Geleophysic dysplasia is a genetically heterogeneous disorder caused by autosomal recessive mutations in the ADAMTSL2 gene (GPHYSD1; MIM 231050) or autosomal dominant mutations in exons 41 and 42 of the FBN1 gene (GPHYSD2; MIM 614185).  Typical findings in GPHYSD1 and GPHYSD2  include: mild facial abnormalities consisting of upturned corners of theread more

Tests Available

By gene: FBN1
Sanger Sequencing
$445
Test Code: 1012
Exons 41 and 42 only

Test Details

Technical Information
Genes: 
FBN1
Test Note: 
Exons 41 and 42 only
Disease Groups: 
Skeletal Dysplasias
MIM: 
102370
Billing
Price: 
$445
CPT Codes: 
81479 x 1
Ordering
SKU:
1012
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.

Search Tests

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