Cytogenetic SNP Array (Blood, Products of Contraception, amniocentesis, CVS)

This Cytogenomic SNP array is a high-resolution method for detecting copy number changes (gains or losses) across the entire genome in a single assay. This platform is also capable of detecting regions of homozygosity related to uniparental disomy or identity by descent. Indications for ordering include the following: Individuals with developmental delay/intellectual disability (with or without dysmorphic features), multiple congenital anomalies, autism spectrum disorder/pervasive developmental disorder, epilepsy/seizures, heart defects, family history of a chromosomal abnormality resulting in a genomic imbalance. This test is also able to further characterize certain chromosomal abnormalities including marker or ring chromosomes, Deletions or duplications, Unbalanced translocations and Apparently balanced de-novo rearrangements in individuals with abnormal phenotypes.

For more details and ordering, please click here.

Cellular Fish (bladder cancer FISH/UroVysion, prenatal FISH/AneuVysion, TUPLE1/22q, ELN/Williams, 5p/Cri du Chat, 4p/Wolf-Hirschhorn)

CEBPA (CCAAT/enhancer-binding protein-Alpha) is a single-exon gene, mapped to 19q13.1, which encodes a leucine zipper transcription factor with an important role in myeloid differentiation. CEBPA mutations are encountered in approximately 8% to 15% of AML, most commonly in cytogenetically normal AML (CN-AML)3-5. Patients with CEBPA mutated AML (CEBPA-AML) may carry one (single-mutated CEPBA) or two mutated alleles (double-mutated CEPBA). CEBPA mutations are highly variable and can occur across the entire coding region of the gene. Mutations in CEBPA single-mutant cases are distributed in the entire coding region, with a greater portion in the midregion. CEBPA mutation status has gained utility as an independent prognostic factor for CN-AML, which is categorized as an intermediate risk group. Recent studies have shown that double mutations in the CEBPA gene is associated with lower relapse rates and improved survival, and therefore predicts an improved prognosis for patients with CN-AML. Given its prognostic importance, AML with mutated CEBPA represents a provisional entity in the 2008 World Health Organization classification of tumors of the hematopoietic and lymphoid tissues. Consequently, testing for CEBPA mutations may assist in the prognostic stratification of these patients, which ultimately may facilitate the selection of individualized and risk adapted therapies.

For more details and ordering, please click here.