Osteogenesis Imperfecta (OI) and genetic bone disorders
Autosomal Dominant OI Panel (COL1A1, COL1A2, IFITM5)
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OI and Genetic Bone Disorders Panel
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(ALPL, B3GAT3, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A/TENT5A, FGFR3, FKBP10, GORAB,
IFITM5, LRP5, MBTPS2, MESD, NBAS, P3H1, P4HB, PLOD2, PLOD3, PLS3, PPIB, RUNX2, SEC24D, SERPINF1, SERPINH1,
SP7, SPARC, TAPT1, TMEM38B, TNFRSF11B, WNT1, XYLT2)
Individual Genes:
COL1A1 and COL1A2
IFITM5
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Caffey Disease (COL1A1 c.3040C>T), Sanger sequencing
X-Linked Osteoporosis (PLS3)
Osteopetrosis Panel
(AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11)
Classical and Vascular EDS Panel (COL5A1, COL5A2, COL3A1)
Classical EDS (COL5A1 and COL5A2)
Arthrochalasia EDS (Exon 6 COL1A1/COL1A2), Sanger sequencing
Dermatosparaxis EDS (ADAMTS2)
Kyphoscoliotic EDS (PLOD1 and FKBP14)
Periodontal EDS (C1S and C1R)
Complex EDS-like Disorders
(B3GALT6, B4GALT7, B3GAT3, CHST14, CHST3, XYLT1)
Arterial Aneurysm Panel
(ACTA2, BGN, CBS, COL1A1, COL3A1, FBN1, FBN2, FOXE3, LOX, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD3,
PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2)
Marfan Syndrome and Loeys-Dietz Syndrome Panel (FBN1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2)
COL4A1 and COL4A2 Related Disorders (COL4A1 and COL4A2)
Cutis Laxa Panel
(ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1, RIN2, SLC2A10)
(ADAMTS10, ADAMTS17, ADAMTSL4, CBS, FBN1)
Alport Syndrome
Alport Syndrome Panel
(COL4A3, COL4A4, COL4A5)
X-Linked Alport Syndrome (COL4A5)
Stickler Syndrome
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Collagen Diagnostic Laboratory Test Requisition
Targeted pre-mRNA Splicing Analysis (cultured fibroblasts required)
Maternal Cell Contamination Studies (fragment analysis)
Ectopia Lentis Panel
Known Mutation/Variant Testing
Name of Relative (Proband):
(Please provide copy of report if testing done at another laboratory)
CDL#:
Gene:
Ehlers-Danlos Syndromes (EDS)
Vascular Genetic Disorders
TEST REQUESTED (See website for current costs and CPT codes)
Comprehensive EDS Panel (ADAMTS2, ATP7A, C1R, C1S, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE,
FKBP14, FLNA, PLOD1, SLC39A13)
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Mutation/Variant:
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Marfan syndrome (FBN1)
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Stickler Panel (COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2)
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Panels and single gene tests include both sequencing and deletion/duplication analysis by next-generation sequencing
Other Tests