GeneDx has introduced sequencing and array-based testing for mutations in KRIT1, CCM2, and PDCD10, three genes associated with cerebral cavernous malformations.
CCMs are central nervous system vascular lesions formed by a cluster of grossly dilated blood vessels. Features and symptoms can include seizures, epilepsy, focal neurological deficits, chronic headaches, stroke, and cerebral hemorrhage
A mutation in one of the three genes is identified in 78 percent of individuals with a clinical diagnosis and family history of CCM, according to GeneDx.
The firm is offering bidirectional sequence analysis of the complete coding regions of the KRIT1, CCM2, and PDCD10 genes as well as deletion and duplication testing at the exon level by targeted array comparative genomic hybridization using its ExonArrayDx chip for these genes.
Analysis of KRIT1 is available in tiers: Tier 1 includes analysis of exons 14, 16, and 18, where 56 percent of all mutations in KRIT1 have been identified; Tier 2 analysis includes sequencing of the remaining exons of KRIT1 and concurrent ExonArrayDx analysis of the KRIT1, CCM2, and PDCD10 genes.
If negative, sequencing of CCM2 and PDCD10 is also available, according to the firm. As approximately 81 percent of individuals with familial CCM are expected to have a mutation that could be identified in Tier 1 or 2, GeneDx maintains that reflex testing is the most cost-effective approach. For individuals who present with early onset in childhood, the firm will sequence PDCD10 first.
Connective Tissue Gene Tests has introduced sequencing- and array-based testing for osteogenesis imperfecta, types I, IIA, III & IV.
OI, also known as brittle bone disease, is a heritable disorder of connective tissue characterized by bone fragility and low bone mass. Mutations in the COL1A1 and COL1A2 genes cause approximately 90 percent of OI cases, according to CTGT.
The company is offering sequencing of the COL1A1 and COL1A2 genes for $1,750. CTGT is also offering deletion and duplication analysis of the genes using its high-density targeted array. Customers must select one of the two genes for analysis. CTGT charges $1,190 for the first gene and $590 for the second gene analyzed.