Potential Test Results:
A normal result indicates no clinically-significant chromosome abnormalities were identified.
- arr[hg19](1-22,X)x2 (female)
- arr[hg19](1-22)x2,(XY)x1 (male)
- Results are reported by location in the genome, including chromosome and size.
- An abnormal result indicates that a clinically-significant chromosome abnormality was identified in the fetus that likely provides an explanation for the indications.
- Pathogenic – Reported when a copy number variant (CNV) is associated with a known syndrome (see Prenatal Disorders List) that is covered by this array.
- Uncertain Clinical Significance (UCS) – Our Prenatal Microarray is designed to identify clinically-relevant anomalies. However, in rare cases, a reportable anomaly may be identified for which a definitive classification (i.e., normal or abnormal) is not possible. In those cases, these anomalies will be reported as variants of uncertain clinical significance. Uncertain variants may also be classified as “Likely Pathogenic” or “Likely Benign” based on the ACMG recommendations for variant classification.1
- Deletion: Part of a chromosome (genetic material) is missing. Some may be very small and only include one gene and others are bigger and may involve numerous genes.
- Duplication: Extra chromosome material is present in the patient’s DNA.
- Parental testing (Postnatal Chromosome Analysis on maternal and/or paternal blood) may be recommended in order to clarify whether the result is de novo or familial for the purpose of recurrence risk calculation.
- Richards et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med advance online publication 5 March 2015; 1-20.