Stickler syndrome, types I, II and III, Marshall syndrome and autosomal recessive Stickler syndrome - Stickler syndrome (types I, II & III) and related Marshall syndrome are autosomal dominantly inherited disorders caused by defects in three genes. Stickler syndrome, type I (classical type, STL1; MIM 108300) is due to mutations in COL2A1.read more

Tests Available

By gene: COL11A1
Next Generation Sequencing
$990
Test Code: 1193
Deletion / Duplication
$680
Test Code: 1194
NGS/Del Dup Comprehensive
$1,570
Test Code: 1583

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Skeletal dysplasia extended NGS panel (19 genes)
NGS $1,490
Del Dup $1,150
Comp $2,490
Stickler syndrome NGS panel (7 genes)
NGS $1,370
Del Dup $990
Comp $2,210

Test Details

Technical Information
Genes: 
COL11A1
Disease Groups: 
Stickler Syndrome and Related Disorders
Eye Disorders
MIM: 
154780
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1193
Turnaround Time: 
Typically 3 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: 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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