Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

COL2A1 GENE SEQUENCING

General Information

Lab Order Codes:

C2A1

Synonyms:

Achondrogenesis, Type II (ACG2)/ACG1B; Avascular Necrosis of Femoral Head, Primary (ANFH); Kniest Dysplasia; Osteoarthritis with mild chondrodysplasia; Platyspondylic Lethal Skeletal Dysplasia, Torrence Type (PLSDT); Stickler Type 1 (STL1); Spondyloepimetaphyseal Dysplasia, Studwick Type (SEMD); Spondyloperipheral Dysplasia; Spondyloepiphyseal Dysplasia Congenital (SEDc)

CPT Codes:

81479 – Molecular Pathology, Unlisted Procedure

Test Includes:

Direct DNA sequencing of PCR products generated from genomic DNA, sequencing of exons and exon-intron boundaries, point mutations, splice site mutations and small exonic deletions, insertions and indels.

Logistics

Test Indications:

For confirmation of symptoms and the clinical diagnosis related to Achondrogenesis, Type II (ACG2)/ACG1B; Avascular Necrosis of Femoral Head, Primary (ANFH); Kniest Dysplasia; Osteoarthritis with mild chondrodysplasia; Platyspondylic Lethal Skeletal Dysplasia, Torrence Type (PLSDT); Stickler Type 1 (STL1); Spondyloepimetaphyseal Dysplasia, Studwick Type (SEMD); Spondyloperipheral Dysplasia; or Spondyloepiphyseal Dysplasia Congenital (SEDc).

Lab Testing Sections:

Anatomic Pathology - Sendouts

Referred to:

Connective Tissue Gene Tests (CTGT)

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours

Turnaround Time:

1 – 2 weeks

Special Instructions:

Please include a completed CTGT Request form with the patient or specimen to the laboratory.

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

6 mL (Minimum: 4 mL) blood

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture

Special Processing:

Lab Staff: Do Not centrifuge. Specimen should be sent in original collection container. Send via overnight shipping with a cold pack to reach CTGT Monday through Friday. If weekend or holiday when drawn, store at refrigerated temperatures. Please include a CTGT Shipment Packing Slip with the shipment.

Patient Preparation:

None

Sample Rejection:

Mislabled or unlabeled specimen

Interpretive

Reference Range:

Interpretive report

Critical Values:

N/A

Limitations:

Published estimates of test sensitivity for genes linked to certain disorders can be very inaccurate, and that it is difficult to predict the probability of detecting a mutation in any single gene for one individual. The following factors contribute to this challenge: Many disorders have overlapping phenotypes; some disorders are linked to mutations in more than one gene; in some instances genes remain to be linked to specific disorders; for most disorders, proper diagnosis requires that clinical findings are considered along with genetic findings.

Methodology:

DNA sequencing

References:

Connective Tissue Gene Tests October 2010
(484) 224-2900 Fax (484) 244-2904

Updates:

1/13/2013: CPT 2013 updates
7/10/2013: CPT update CTGT, previously listed as 81408



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