Short study chromosome analysis includes routine karyotyping using G-banding, but fewer cells are analyzed than with routine karyotyping. For short study chromosome analysis, a minimum of 5 cells are counted and a minimum of 2 cells are analyzed for chromosomal abnormalities. Short study chromosome analysis can be used to complement other methods such as microarray to detect certain rearrangements that can only be identified by karyotype. A karyotype can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements.
Test Finders
Chromosome Analysis, Routine (Amniotic Fluid)
Chromosome analysis is an important component in the diagnosis and evaluation of genetic disorders. Chromosome abnormalities in which there is too much or too little genetic material can result in congenital malformations, intellectual disability, and aberrant sexual differentiation. Chromosome analysis can detect chromosome abnormalities such as trisomy, monosomy, triploidy, and marker chromosomes as well as balanced and unbalanced rearrangements. For routine chromosome analysis a minimum of 20 cells are counted to determine the modal number, and a minimum of 5 cells are analyzed for chromosomal abnormalities from G-banded preparations
Prader-Willi Syndrome Methylation-Specific MLPA
Prader-Willi syndrome Methylation-Specific MLPA is a molecular test used to detect copy number variants and methylation abnormalities associated with Prader-Willi syndrome.
Spinocerebellar Ataxia Type 7 Expansion Analysis
Spinocerebellar Ataxia Type 1 Expansion Analysis
ATXN1 trinucleotide repeat analysis is a molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 1.
Spinocerebellar Ataxia Type 2 Expansion Analysis
Spinocerebellar Ataxia Type 3 Expansion Analysis
ATXN3 trinucleotide repeat analysis is a molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 3.
Spinocerebellar Ataxia Type 6 Expansion Analysis
CACNA1A trinucleotide repeat analysis is a molecular test used to identify expanded CAG repeat size in the gene associated with spinocerebellar ataxia type 6.
Spinocerebellar Ataxia Expansion Panel
This panel of 5 genes is intended for patients with a diagnosis or clinical suspicion of spinocerebellar ataxia, and it is performed by trinucleotide repeat expansion analysis.
Pompe Disease, Glycogen Storage Disease Type II: GAA Deletion/Duplication MLPA
GAA MLPA is a molecular test used to identify copy number variants in the gene associated with Glycogen Storage Disease Type II, Pompe disease.
