Spondylodysplastic Ehlers-Danlos syndrome (EDSSPD) is a rare autosomal recessive disorder caused by mutations in the B3BALT6, B4BALT7 and SLC39A13 genes. Clinical features may include short stature, muscle hypotonia, facial dysmorphism, blue slerae, osteopenia, platyspondyly, pes planus, and thin, translucent, fragile skin.read more

Tests Available

By gene: B4GALT7
Next Generation Sequencing
Test Code: 1951
Deletion / Duplication
Test Code: 1952
NGS/Del Dup Comprehensive
Test Code: 1953

Test Details

Technical Information
Disease Groups: 
Ehlers-Danlos Syndrome and Related Disorders
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 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: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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