Number of Panel Genes:
3
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. Joint hypermobility, joint dislocations and joint contractures, especially in hands, are also common findings.
read moreTests Available
3 Panel Genes: B3GALT6, B4GALT7, SLC39A13
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Next Generation Sequencing
Test Code: 2035
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Deletion / Duplication
Test Code: 2036
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NGS/Del Dup Comprehensive
Test Code: 2037
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Test Details
Technical Information
Panel Genes:
B3GALT6, B4GALT7, SLC39A13
Disease Groups:
Ehlers-Danlos Syndrome and Related Disorders
Skin, Tooth, Nail and Hair Disorders
MIM:
130070
615349
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
2035 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- 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.
