Test Code: PNL166
Marfan syndrome and related disorders (39 Genes)
CardioVascular Genetics
Our Marfan Syndrome and Related Disorders Panel is a comprehensive genetic test designed to identify inherited variants associated with connective tissue disorders, including Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, familial thoracic aortic aneurysm and dissection (FTAAD), and other related conditions. This panel analyzes 39 clinically relevant genes, including FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD3, ACTA2, MYH11, COL3A1, COL5A1, and COL5A2, which are associated with disorders affecting the cardiovascular system, skeleton, skin, eyes, and connective tissues.
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
39 genes
ABL1
ACTA2
ADAMTS10
ADAMTS17
ADAMTSL4
AEBP1
B3GAT3
BGN
CBS
COL1A1
COL1A2
COL2A1
COL3A1
COL5A1
COL5A2
COL11A1
COL11A2
DLG4
EFEMP1
EFEMP2
FBN1
FBN2
FLCN
LOX
MAT2A
MED12
MYH11
PLOD1
SKI
SLC2A10
SMAD3
SMAD6
TGFB2
TGFB3
TGFBR1
TGFBR2
UPF3B
VCAN
ZDHHC9
Methodology
Capture-based target enrichment and Next Generation Sequencing
Need Help with This Test?
Our team of board-certified genomic scientists is available to answer your questions about test selection, sample requirements, and result interpretation.