COL2A1 RELATED DISORDERS

COL2A1 Sequencing

DNA ANALYSIS

COL2A1 gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with COL2A1-related Stickler syndrome, achondrogenesis type II, chondrodysplasia, Spondyloepiphyseal dysplasia congenita (SED congenita), Kniest dysplasia, and Spondyloepimetaphyseal dysplasia (SEMD), etc. COL2A1 gene is located on chromosome 12q13.11 and consists of 54 exons. Sequence analysis of exons 1-54 and splice boundaries of the COL2A1 gene is available on a clinical basis at the Medical Genetics Laboratories at Baylor College of Medicine.

Reasons For Referral:

Confirmation of clinical diagnosis
Carrier testing of known familial mutations
Prenatal Diagnosis (known familial mutations)

Testing Methodology:

PCR amplification of the exons in the entire coding region of the COL2A1 gene will be performed on patient genomic DNA. Direct sequencing of amplification products is performed in both the forward and reverse directions using automated fluorescence dideoxy sequencing methods.

Specimen Requirements:

Blood for DNA: EDTA (purple-top) tubes: Adults/Child: Minimum 6-14 cc
Requisition form must accompany the specimen. To receive forms, additional information or specimen collection kits, please contact the laboratory. Please call our laboratory for specific requirements for prenatal testing.

Turnaround Time:

Index: 4 weeks
Known Familial Mutation: 3 weeks

CPT Codes and Prices:

Index: 83912, 83894, 83891, 83898x46, 83904x92, 83909x92
Known Familial Mutation: 83912, 83894, 83891, 83898, 83904x2, 83909x2

Shipping Information

Forms:

>> Gene Sequencing Requisition
>> Prenatal Requisition

References:

1. Spranger J, Winterpacht A, Zabel B (1994). The type II collagenopathies: A spectrum of chondrodysplasias. Eur. J. Pediatr. 153: 56-65.

Test Codes:

Index: 6580
Known Familial Mutation: 6581
Prenatal (Known Familial Mutation Only): 6582