Collagen Diagnostic Laboratory
| Test Name | Panel | Disease Name | Gene | Laboratory | CPT Code |
|---|---|---|---|---|---|
| ADAMTS2 gDNA Testing | Ehlers-Danlos Syndrome type VIIC (Dermatosparaxis) | ADAMTS2 | Collagen Diagnostic Lab | 81479 | |
| ALPL gDNA Testing | Hypophosphatasia | ALPL | Collagen Diagnostic Lab | 81479 | |
| C1S and C1R gDNA Testing | Ehlers-Danlos Syndrome type VIII (Periodontal) | C1R, C1S | Collagen Diagnostic Lab | 81479 | |
| COL1A1 and COL1A2 gDNA Testing | Osteogenesis Imperfecta | COL1A1, COL1A2 | Collagen Diagnostic Lab | 81408 x 2 | |
| COL3A1 gDNA testing | Ehlers-Danlos Syndrome type IV (Vascular EDS) | COL3A1 | Collagen Diagnostic Lab | 81479 | |
| COL4A1 and COL4A2 gDNA Testing | Vascular disease | COL4A1, COL4A2 | Collagen Diagnostic Lab | 81408 x 1, 81479 x 1 | |
| COL4A5 gDNA testing | Alport syndrome (X-linked) | COL4A5 | Collagen Diagnostic Lab | 81408 | |
| COL5A1 and COL5A2 gDNA Testing | Ehlers Danlos Syndrome, Classic Type (Types I and II) | COL5A1, COL5A2 | Collagen Diagnostic Lab | 81479 | |
| FBN1 gDNA Testing | Marfan syndrome | FBN1 | Collagen Diagnostic Lab | 81408 | |
| FKBP14 gDNA Testing | FKBP14-related Ehlers-Danlos Syndrome | FKBP14 | Collagen Diagnostic Lab | 81479 | |
| IFITM5 gDNA Testing | Osteogenesis Imperfecta | IFITM5 | Collagen Diagnostic Lab | 81479 | |
| PLOD1 gDNA Testing | Ehlers Danlos Syndrome type VI (Ocular-scoliotic) | PLOD1 | Collagen Diagnostic Lab | 81479 | |
| PLS3 gDNA Testing | X-Linked Osteoporosis | PLS3 | Collagen Diagnostic Lab | 81479 | |
| Alport syndrome Panel | 3 gene panel | Alport syndrome | COL4A3, COL4A4, COL4A5 | Collagen Diagnostic Lab | 81408 x 2, 81407 x 1 |
| Arterial Aneurysm Panel | 25 gene panel | Familial Aneurysm, Marfan Syndrome, Ehlers-Danlos Syndrome type IV | 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 | Collagen Diagnostic Lab | 81410 |
| Autosomal Dominant OI Panel | 3 gene panel | Osteogenesis Imperfecta | COL1A1, COL1A2, IFITM5 | Collagen Diagnostic Lab | 81408 x 2, 81479 x 1 |
| Caffey Disease Testing | Caffey Disease, Infantile Cortical Hyperostosis | COL1A1 | Collagen Diagnostic Lab | 81403 | |
| Classical and Vascular Ehlers-Danlos Syndrome Panel | 3 gene panel | Ehlers Danlos Syndrome, Classic Type (Types I and II); Vascular Ehlers-Danlos Syndrome (Type IV) | COL3A1, COL5A1, COL5A2 | Collagen Diagnostic Lab | 81479 |
| Complex EDS-like Disorders | 6 gene panel | Complex EDS-like Disorders | B3GALT6, B3GAT3, B4GALT7, CHST14, CHST3, XYLT1 | Collagen Diagnostic Lab | 81479 |
| Comprehensive Dominant OI Panel | 8 gene panel | Osteogenesis Imperfecta | ALPL, COL1A1, COL1A2, IFITM5, LRP5, P4HB, PLS3, WNT1 | Collagen Diagnostic Lab | 81479 |
| Comprehensive EDS Panel | 15 gene panel | Ehlers-Danlos Syndrome | ADAMTS2, AEBP1, ATP7A, C1R, C1S, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, PLOD1, SLC39A13 | Collagen Diagnostic Lab | 81408 x 2, 81479 |
| Cutis Laxa Panel | 13 gene panel | Cutis Laxa | ALDH18A1, ATP6V1A, ATP6V1E1, ATP6VO82, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1, RIN2, SLC2A10 | Collagen Diagnostic Lab | 81479 |
| Deletion/Duplication Analysis | Various Genes | Collagen Diagnostic Lab | |||
| Ectopia Lentis Panel | 4 gene panel | Ectopia Lentis | ADAMTS10, ADAMTS17, ADAMTSL4, CBS, FBN1 | Collagen Diagnostic Lab | 81479 |
| EDS type VII Testing | Ehlers-Danlos Syndrome type VII | COL1A1, COL1A2 | Collagen Diagnostic Lab | 81479 x 2 | |
| Marfan Syndrome and Loeys-Dietz Panel | 8 gene panel | Marfan Syndrome; Loeys-Dietz Syndrome | FBN1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2 | Collagen Diagnostic Lab | 81408, 81405 |
| Maternal Cell Contamination (MCC) Studies | Collagen Diagnostic Lab | 81265 | |||
| OI and Genetic Bone Disorders Panel | 33 gene panel | Osteogenesis Imperfecta and Genetic Bone Disorders | ALPL, B3GAT3, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FGFR3, FKBP10, GORAB, IFITM5, LRP5, MBTPS2, NBAS, P3H1/LEPRE1, P4HB, PLOD2, PLOD3, PLS3, PPIB, RUNX2, SEC24D, SERPINF1, SERPINH1, SP7/OSX, SPARC, TAPT1, TMEM38B, TNFRSF11B, WNT1, XYLT2 | Collagen Diagnostic Lab | 81408 x 2, 81479 |
| Osteopetrosis Panel | 14 gene panel | Osteopetrosis | AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11 | Collagen Diagnostic Lab | 81479 |
| Prenatal Testing | Known Familial Mutations, Osteogenesis Imperfecta | Collagen Diagnostic Lab | 81479 or 81403 | ||
| Recessive OI Panel + ALPL | 13 gene panel | Osteogenesis Imperfecta | ALPL, BMP1, CREB3L1, CRTAP, FKBP10, P3H1/LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7/OSX, TMEM38B, WNT1 | Collagen Diagnostic Lab | 81479 |
| Stickler Syndrome Panel | 6 gene panel | Stickler syndrome | COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3 | Collagen Diagnostic Lab | 81479 |
| Targeted pre-mRNA Splicing Analysis | Connective tissue disorders | Genes expressed in fibroblasts | Collagen Diagnostic Lab | 81479 | |
| Testing for Known Mutation/Familial Variant | All diseases | All genes | Collagen Diagnostic Lab |