Developmental Disorders (Cytogenetics)

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Invitae Chromosomal Microarray Analysis

Chromosomal microarray (CMA) analysis can identify chromosomal abnormalities that may be associated with developmental disorders, including: developmental delay (DD), intellectual disability (ID), multiple congenital anomalies (MCA), dysmorphic features, autism spectrum disorders (ASD), seizures, epilepsy, and/or other disorders.

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Invitae Karyotype (Chromosome Analysis)

Karyotype (chromosome analysis) is performed on peripheral blood and can identify numerical and/or structural chromosomal abnormalities, including: whole chromosome aneuploidies, segmental aneuploidies, and balanced or unbalanced chromosome rearrangements.

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Fragile X - Related Disorders, Diagnostic

Genetic testing for the FMR1 gene that is associated with fragile X syndrome. This test can only be ordered with a simultaneous cytogenetic test, such as chromosomal microarray analysis (CMA) or karyotype.