Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1; MIM 130070) and Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2; 615349) are autosomal recessive disorders. EDSP1 is caused by mutations in the B4GALT7 gene, which codes for beta-1,4-galactosyltransferase 7. EDSP2 is caused by mutations in the  B3GALT6 gene, which codes for beta-1,3-galactosyltransferase more

Tests Available

By gene: B3GALT6
Next Generation Sequencing
Test Code: 2032
Deletion / Duplication
Test Code: 5271
NGS/Del Dup Comprehensive
Test Code: 5272

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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: 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)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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