Lab Dept:

Anatomic Pathology

Test Name:

COL11A1 GENE SEQUENCING

General Information

Lab Order Codes:

11A1

Synonyms:

Marshall syndrome COL11A1; Stickler syndrome, type II (STL2) COL11A1

CPT Codes:

81408 – Molecular Pathology procedure, Level 9

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 Marshall syndrome COL11A1 or Stickler syndrome, type II (STL2) COL11A1.

Stickler syndrome and related Marshall syndrome are autosomal dominantly inherited disorders caused by defects in three genes. Stickler syndrome, type II and Marshall syndrome are due to mutations in COL11A1.

Stickler syndrome, types I and II are characterized by high myopia, retinal detachment, vitreoretinal degeneration, and cataracts. Some patients may have hearing loss, epiphyseal dysplasia and early-onset osteoarthritis. In addition, cleft palate and Robin sequence (cleft palate, small chin and glossoptosis) are seen in about 30% of the patients.

Marshall syndrome patients have hearing loss, myopia (low or high), vitreoretinal degeneration, retinal detachment, cataracts, midfacial hypoplasia, and cleft palate/Robin sequence. These patients may also have epiphyseal dysplasia and early-onset osteoarthritis.

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:

1/31/2013: CPT 2013 update