Two nuclear encoded genes, COL1A1 and COL1A2, involved in the formation of collagen are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation sequence technology. These genes are also included in the Low Bone Mass Panel (#2090) along with 20 other genes involved in low bone mass (ALPL, B4GALT7, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, FKBP10, IFITM5, LEPRE1, PLOD2, PLOD3, PPIB, SERPINF1, SLC34A1, SLC39A13, SLC9A3R1, SP7, TNFRSF11A and TNFRSF11B)
All exons of these 2 genes are examined by NGS. Exonic variants and intronic variants within 20bp of the exon/intron boundary will be reported. This massively parallel sequence analysis (MitomeNGS®) will not detect genomic structural rearrangements (eg. deletions, duplications, and inversions), large insertion mutations (e.g. ALU mediated insertion), and mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing.
Sequence analysis for COL1A2 can also be ordered separately: (#2635).