Collagen Diagnostic Laboratory

Test NamePanelDisease NameGeneLaboratoryCPT Code
ACTA2 gDNA TestingThoracic Aortic Aneurysms and Dissections (TAAD)
ACTA2
Collagen Diagnostic Lab 81405
ALPL gDNA TestingHypophosphatasia
ALPL
Collagen Diagnostic Lab 81479
BMP1 gDNA TestingOsteogenesis Imperfecta
BMP1
Collagen Diagnostic Lab 81479
C1S and C1R gDNA TestingEhlers-Danlos Syndrome type VIII (Periodontal)
C1R, C1S
Collagen Diagnostic Lab 81479
COL1A1 and COL1A2 gDNA TestingOsteogenesis Imperfecta
COL1A1, COL1A2
Collagen Diagnostic Lab 81408 x 2
COL3A1 gDNA testingEhlers-Danlos Syndrome type IV (Vascular EDS)
COL3A1
Collagen Diagnostic Lab 81479
COL4A1 and COL4A2 gDNA TestingVascular disease
COL4A1, COL4A2
Collagen Diagnostic Lab 81408 x 1, 81479 x 1
COL4A5 gDNA testingAlport syndrome (X-linked)
COL4A5
Collagen Diagnostic Lab 81408
COL5A1 and COL5A2 gDNA TestingEhlers Danlos Syndrome, Classic Type (Types I and II)
COL5A1, COL5A2
Collagen Diagnostic Lab 81479
CREB3L1 gDNA TestingOsteogenesis Imperfecta
CREB3L1
Collagen Diagnostic Lab 81479
CRTAP gDNA TestingOsteogenesis Imperfecta
CRTAP
Collagen Diagnostic Lab 81479
FBN1 gDNA TestingMarfan syndrome
FBN1
Collagen Diagnostic Lab 81408
FKBP10 gDNA TestingOsteogenesis Imperfecta, Bruck Syndrome
FKBP10
Collagen Diagnostic Lab 81479
FKBP14 gDNA TestingFKBP14-related Ehlers-Danlos Syndrome
FKBP14
Collagen Diagnostic Lab 81479
IFITM5 gDNA TestingOsteogenesis Imperfecta
IFITM5
Collagen Diagnostic Lab 81479
MYH11 gDNA TestingFamilial Aneurysm
MHY11
Collagen Diagnostic Lab 81408
MYLK gDNA TestingFamilial Aneurysm
MYLK
Collagen Diagnostic Lab 81479
P3H1/LEPRE1 gDNA TestingOsteogenesis Imperfecta
P3H1/LEPRE1
Collagen Diagnostic Lab 81479
PLOD1 gDNA TestingEhlers Danlos Syndrome type VI
PLOD1
Collagen Diagnostic Lab 81479
PLOD2 gDNA TestingOsteogenesis Imperfecta, Bruck Syndrome
PLOD2
Collagen Diagnostic Lab 81479
PLS3 gDNA TestingX-Linked Osteoporosis
PLS3
Collagen Diagnostic Lab 81479
PPIB gDNA TestingOsteogenesis Imperfecta
PPIB
Collagen Diagnostic Lab 81479
PRKG1 gDNA TestingFamilial Aneurysm
PRKG1
Collagen Diagnostic Lab 81479
SERPINF1 gDNA TestingOsteogenesis Imperfecta
SERPINF1
Collagen Diagnostic Lab 81479
SERPINH1 gDNA TestingOsteogenesis Imperfecta
SERPINH1
Collagen Diagnostic Lab 81479
SLC2A10 gDNA TestingArterial Tortuosity Syndrome
SLC2A10
Collagen Diagnostic Lab 81479
SMAD3 gDNA TestingFamilial Aneurysm, Loeys-Dietz Syndrome, Aneurysm-Osteoarthritis Syndrome
SMAD3
Collagen Diagnostic Lab 81479
SP7 gDNA TestingOsteogenesis Imperfecta
SP7
Collagen Diagnostic Lab 81479
TGFB2 gDNA TestingFamilial Aneurysm, Loeys-Dietz Syndrome
TGFB2
Collagen Diagnostic Lab 81479
TGFB3 gDNA TestingFamilial Aneurysm, Loeys-Dietz Syndrome, Marfan Syndrome
TGFB3
Collagen Diagnostic Lab 81479
TGFBR1 and TGFBR2 gDNA TestingLoeys-Dietz Syndrome
TGFBR1, TGFBR2
Collagen Diagnostic Lab 81405 x 2
TMEM38B gDNA TestingOsteogenesis Imperfecta
TMEM38B
Collagen Diagnostic Lab 81479
WNT1 gDNA TestingOsteogenesis Imperfecta
WNT1
Collagen Diagnostic Lab 81479
Alport syndrome Panel3 gene panelAlport syndrome
COL4A3, COL4A4, COL4A5
Collagen Diagnostic Lab 81408 x 2, 81407 x 1
Arterial Aneurysm Panel23 gene panelFamilial Aneurysm, Marfan Syndrome, Ehlers-Danlos Syndrome type IV
ACTA2, BGN, CBS, COL3A1, FBN1, FBN2, FOXE3, LOX, MAT2A, MFAP5, MYH11, MYLK, PLOD3, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
Collagen Diagnostic Lab 81410
Bruck SyndromeOsteogenesis Imperfecta, Bruck Syndrome
FKBP10, PLOD2
Collagen Diagnostic Lab 81479 x 2
Caffey Disease TestingCaffey Disease, Infantile Cortical Hyperostosis
COL1A1
Collagen Diagnostic Lab 81403
Comprehensive Dominant OI Panel8 gene panelOsteogenesis Imperfecta
ALPL, COL1A1, COL1A2, IFITM5, LRP5, P4HB, PLS3, WNT1
Collagen Diagnostic Lab 81479
Comprehensive EDS Panel14 gene panelEhlers-Danlos Syndrome
ADAMTS2, ATP7A, C1R, C1S, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, PLOD1, SLC39A13
Collagen Diagnostic Lab 81479
Core Ehlers-Danlos Syndrome Panel3 gene panelEhlers Danlos Syndrome, Classic Type (Types I and II); Vascular Ehlers-Danlos Syndrome (Type IV)
COL3A1, COL5A1, COL5A2
Collagen Diagnostic Lab 81479
Deletion/Duplication AnalysisAll diseases
Various Genes
Collagen Diagnostic Lab 81411; 81228
Dominant and Recessive OI Panel17 gene panelOsteogenesis Imperfecta
ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, P3H1/LEPRE1, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7/OSX, TMEM38B, WNT1
Collagen Diagnostic Lab 81479
Dominant OI Panel3 gene panelOsteogenesis Imperfecta
COL1A1, COL1A2, IFITM5
Collagen Diagnostic Lab 81408 x 2, 81479 x 1
EDS type VII TestingEhlers-Danlos Syndrome type VII
COL1A1, COL1A2
Collagen Diagnostic Lab 81479 x 2
Marfan Syndrome and Loeys-Dietz Panel8 gene panelMarfan Syndrome; Loeys-Dietz Syndrome
FBN1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
Collagen Diagnostic Lab 81479
Maternal Cell Contamination (MCC) Studies
Collagen Diagnostic Lab 81265
Prenatal TestingKnown Familial Mutations, Osteogenesis Imperfecta
Collagen Diagnostic Lab 81479
Recessive OI Panel + ALPL13 gene panelOsteogenesis Imperfecta
ALPL, BMP1, CREB3L1, CRTAP, FKBP10, P3H1/LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7/OSX, TMEM38B, WNT1
Collagen Diagnostic Lab 81479
Testing for Known Mutation/Familial VariantAll diseases
All genes
Collagen Diagnostic Lab

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