Search Results for:
Osteogenesis Imperfecta
Comprehensive Dominant OI Panel
Collagen Diagnostic Lab
…Comprehensive Dominant OI Panel offers sequencing for non-recessive forms of OI. Causative mutations have been identified in several genes associated with autosomal dominant forms of Osteogenesis Imperfecta (OI): most commonly…
OI and Genetic Bone Disorders Panel
Collagen Diagnostic Lab
…The Collagen Diagnostic Laboratory offers a comprehensive Osteogenesis Imperfecta (OI) and related bone disorder panel of 33 genes. The OI and Genetic Bone Disorders panel includes 4 genes associated…
Autosomal Dominant OI Panel
Collagen Diagnostic Lab
…Causative mutations have been identified in three genes associated with autosomal dominant forms of Osteogenesis Imperfecta (OI): COL1A1, COL1A2 and IFITM5. Over 95% of OI phenotypes result from a…
IFITM5 gDNA Testing
Collagen Diagnostic Lab
…by IFITM5 genomic sequence analysis be moved to the first tier. For guidelines on the correct test to order and for pertinent references, consult the Osteogenesis Imperfecta Test Guide….
COL1A1 and COL1A2 gDNA Testing
Collagen Diagnostic Lab
…phenotypes within a spectrum of age of onset, stature and deformity. For guidelines on the correct test to order and for pertinent references, consult the Osteogenesis Imperfecta Test Guide….
Recessive OI Panel + ALPL
Collagen Diagnostic Lab
…mutations have been identified in thirteen genes associated with autosomal recessive forms of Osteogenesis Imperfecta: FKBP10, CRTAP, P3H1/LEPRE1, PPIB, SERPINH1, SP7/OSX, SERPINF1, PLOD2, ALPL, BMP1, TMEM38B, WNT1 and CREB3L1. The…
Prenatal Testing
Collagen Diagnostic Lab
…The CDL offers targeted mutation analysis for a known familial mutation on prenatal samples (all genes) and full sequencing of the Osteogenesis Imperfecta genes (Dominant and Recessive) in pregnancies….
PLS3 gDNA Testing
Collagen Diagnostic Lab
…PLS3 mutations have recently been identified in about 4% of male individuals with the clinical diagnosis of osteogenesis imperfecta type I or juvenile idiopathic osteoporosis AND normal sequence analysis…
Maternal Cell Contamination (MCC) Studies
Collagen Diagnostic Lab
…genes) and full sequencing of the Osteogenesis Imperfecta genes (Dominant and Recessive) in pregnancies. We ask that you notify one of the genetic counselors in advance (Sam Bailey or Dru…