Number of Panel Genes: 
3

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

3 Panel Genes: COL9A1, COL9A2, COL9A3
Next Generation Sequencing
$1,100
Test Code: 1330
Deletion / Duplication
$990
Test Code: 1660
NGS/Del Dup Comprehensive
$1,475
Test Code: 1661

Test Details

Technical Information
Panel Genes: 
COL9A1, COL9A2, COL9A3
Disease Groups: 
Stickler Syndrome and Related Disorders
Craniosynostosis and Craniofacial Disorders
Eye Disorders
Hearing Disorders
MIM: 
120210
120260
Billing
Price: 
$1,100
CPT Codes: 
81479 x 3
Ordering
SKU:
1330
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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