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8005: MTTP Gene Sequencing+

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Test Code Test Name Turnaround Blood Sample Tissue Sample CPT Codes 2015 CPT Codes 2013
8005 MTTP (Microsomal Triglyceride Transfer Protein) 3 weeks $1,800.00 $1,900.00 81406 81479
whole gene sequencing

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The MTTP gene encodes Microsomal TriglycerideTransfer Protein, which is an important component of beta-lipoprotein[1], involved in lipid metabolism [2, 3]. The MTTP gene is located on chromosome 4q24. Mutation of the MTTP gene causes abetalipoproteinemia[2, 4]. This condition is associated with abnormality of lipid metabolism and malabsorption of fat soluble vitamins [2]. This leads to nutritional and neurological deficiencies. Clinical symptoms of abetalipoprotenemia include diarrhea, failure to thrive, and neurological symptoms[2, 3].


1. Bradbury, P., et al., A common binding site on the microsomal triglyceride transfer protein for apolipoprotein B and protein disulfide isomerase. J Biol Chem, 1999. 274(5): p. 3159-64.

2. Shoulders, C.C., et al., Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. Hum Mol Genet, 1993. 2(12): p. 2109-16.

3. Wang, J. and R.A. Hegele, Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. Hum Mutat, 2000. 15(3): p. 294-5.

4. Wetterau, J.R., et al., Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science, 1992. 258(5084): p. 999-1001.