Ehlers-Danlos syndrome, musculocontractural type (MIM 601776) is an autosomal recessive variant of Ehlers-Danlos syndrome (EDS) caused by mutations in the carbohydrate sulfotransferase 14 gene (CHST14).  The musculocontractural type of Ehlers-Danlos syndrome was formerly known as EDS, type VIB, the kyphoscoliotic type of EDS (with normal lysyl hydroxylase activity) or adducted thumb-clubfoot syndrome.  In addition to progressive kyphoscoliosis, patients with theread more

Tests Available

By gene: CHST14
Sanger Sequencing
$570
Test Code: 1127
Deletion / Duplication
$680
Test Code: 1128
Sanger/Del Dup Comprehensive
$1,150
Test Code: 1532

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Test Details

Technical Information
Genes: 
CHST14
Disease Groups: 
Ehlers-Danlos Syndrome and Related Disorders
Skin, Tooth, Nail and Hair Disorders
MIM: 
601776
Billing
Price: 
$570
CPT Codes: 
81479 x 1
Ordering
SKU:
1127
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.

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