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Microarrays
Test Name : Connective Tissue Disorders
GENE
ACTA2
B3GAT3
CBS
COL1A1
COL1A2
COL3A1
COL4A5
COL5A1
COL5A2
EFEMP2
ELN
FBLN5
FBN1
FBN2
FLNA
FOXE3
GATA5
LOX
MAT2A
MED12
MFAP5
MYH11
MYLK
NOTCH1
PLOD1
PLOD3
PRKG1
SKI
SLC2A10
SMAD2
SMAD3
SMAD4
SMAD6
TGFB2
TGFB3
TGFBR1
TGFBR2
Conditions
Familial thoracic aortic aneurysm
Multisystemic smooth muscle dysfunction syndrome
Multiple joint dislocations and short stature and Craniofacial disorder dysmorphism with or without congenital heart defects
Homocystinuria
Hyperhomocysteinemic
Ehlers-Danlos syndrome
Osteogenesis imperfecta
Connective Tissue Disorders
Alport syndrome
Cutis laxa
Connective Tissue Disorders
Macular degeneration
Marfan syndrome
Contractural arachnodactyly
Diarrhea
Pulmonary disease
Neonatal respiratory distress
Aortic aneurysm
Adams-Oliver syndrome
Kyphoscoliosis
Shprintzen Goldberg
Craniofacial disorder
Craniosynostosis
Arterial tortuosity syndrome
Loeys-Dietz syndrome
Hereditary hemorrhagic telangiectasia
Pulmonary Vascular
Pulmonary hypertension
Pneumothorax