Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

MARFAN SYNDROME (FBN1) KNOWN MUTATION

General Information

Lab Order Codes:

MKM

Synonyms:

FBN1 Fibrillin-1 gene analysis for Marfan’s syndrome

CPT Codes:

81403 – Molecular Pathology procedure, Level 4

Test Includes:

Testing for FBN1 gene.

Logistics

Test Indications:

This test is for family members of an affected individual who has already been tested by CTGT.

Lab Testing Sections:

Anatomic Pathology - Sendouts

Referred to:

Connective Tissue Genetics Tests (CTGT)

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

24 hours

Turnaround Time:

4 weeks

Special Instructions:

A completed CTGT request form must be sent with the patient or specimen to the laboratory

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

9 mL (Minimum: 6 mL) blood

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture, mix specimen by gentle inversion

Special Processing:

Lab Staff: Do Not centrifuge. Specimen should be sent in original collection container. Send via overnight shipping with a cold pack. Specimens drawn on weekends or holidays should be stored at refrigerated temperatures until specimen can be shipped to arrive Monday through Friday.

Patient Preparation:

None

Sample Rejection:

Mislabeled or unlabeled specimens

Interpretive

Reference Range:

No mutations detected

Critical Values:

N/A

Limitations:

The technology does not detect all possible mutations in this gene.

Methodology:

PCR amplification, gel electrophoresis

References:

Connective Tissue Gene Tests April 2006
(301) 519-2100 Fax (301) 519-2892

Updates:

2/6/2013: CPT update



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