All Tests Marfan syndrome, type I (MFS1)
Marfan syndrome, type I (MFS1)
Marfan syndrome, type I and type II
Marfan syndrome, type I (MFS1; MIM 154700) and type II (MFS2; MIM 610168) are autosomal dominantly inherited disorders potentially affecting numerous organ sites. These include: the bones, eyes, lungs, skin, CNS and cardiovascular system. The most serious consequence of Marfan syndrome is due to the progressive dilatation of the aortic root and the consequent potential for dissection. MFS1 is caused by mutations in the FBN1 gene. This gene codes for fibrillin 1, a component of microfibrils. Microfibrils are found in both elastic and non-elastic tissues. Over 1000 different FBN1 mutations have been identified in Marfan syndrome, type I. Most mutations are single nucleotide substitutions or small insertions and deletions. Large FBN1 gene deletions are estimated to represent 2% of the mutations. MFS2 is caused by mutations in the gene coding for TGF-ß receptor 2 (TGFBR2).
Sequencing of all 65 FBN1 exons and exon boundaries.
| CPT Codes: | 83890 | 83898 | 83894 | 83904 | 83912 |
| 1 | 58 | 58 | 63 | 1 | |
TaqMan quantitative real-time PCR assay for detection of deletions/duplications:
The test consists of sixty-five primer/probe sets designed to amplify a region of all 65 FBN1 exons. The method will detect large deletions/duplications involving one or more exons. Partial exon deletions/duplications may not be detected unless they are located within the amplified region of the exon.
| CPT Codes: | 83890 | 83898 | 83894 | 83904 | 83912 |
| 1 | 65 | NA | NA | 1 | |
Explanation of pricing:
The First Gene price and CPT codes below are for the first gene tested by HDT Array on a particular specimen. The Additional Gene(s) price and CPT codes are for any subsequent gene(s) tested by HDT Array on the same specimen.
| CPT Codes: | 83890 | 83892 | 83894 | 88386 | 83912 |
| 1 | 2 | 1 | 4 | 1 | |
| CPT Codes: | 83890 | 83892 | 83894 | 88386 | 83912 |
| NA | NA | NA | 4 | 1 | |
