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: B3GALT6
Next Generation Sequencing
$900
Test Code: 2032
Deletion / Duplication
$900
Test Code: 5271
NGS/Del Dup Comprehensive
$1,100
Test Code: 5272

Related Panels

Test Details

Technical Information
Genes: 
B3GALT6
Disease Groups: 
Ehlers-Danlos Syndrome and Related Disorders
Skin, Tooth, Nail and Hair Disorders
MIM: 
615349
Billing
Price: 
$900
CPT Codes: 
81479 x 1
Ordering
SKU:
2032
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: 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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