Clinics and Departments

Laboratory Services

Lab Dept:

Anatomic Pathology

Test Name:

MARFAN SYNDROME (FBN1/TGFBR2) TYPE I & II SEQUENCING

General Information

Lab Order Codes:

MAT12

Synonyms:

FBN1 and TGFBR2 gene analysis for Marfan’s syndrome

CPT Codes:

81408 – Molecular Pathology procedure, Level 9
81405 – Molecular Pathology procedure, Level 6

Test Includes:

Testing for genes FBN1 & TGFBR2

Logistics

Test Indications:

Fibrillin-1 is the major structural component of the microfibrils that link together the various extracellular matrix components in most connective tissues, thus providing support for the organs. Microfibrils can also associate with elastin, forming elastic fibers that provide resilience and elasticity in tissues. Defects in the FBN1 are related to Marfan Syndrome Type I, while defects in TGFBR2 are related to Marfan Syndrome Type II.

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:

24 hours

Turnaround Time:

2 to 3 months

Special Instructions:

No transfusions within the past 30 days. Please include completed CTGT Request form 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 to reach CTGT Monday through Friday. If weekend or holiday when drawn, store at refrigerated temperatures.

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 these genes.

Methodology:

PCR amplification, gel electrophoresis

References:

Connective Tissue Gene Tests April 2006
(484) 244-2900 Fax (484) 244-2904

Update:

2/6/2013: CPT update
7/10/2013: CPT update CTGT, now reported as both 81408 & 81405



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