Cytogenetic Testing

Angelman Syndrome: (15q11q13) FISH Analysis

FISH analysis for Angelman syndrome is a cytogenetic test used to identify identify deletions or duplications in chromosome region 15q11q13.

Array Confirmation: Parental and Family Studies

This test is used to analyze parents and family members for copy number variants (CNVs) identified in the proband via microarray.

Chromosome Analysis, High Resolution (Blood)

Chromosome Analysis, High Resolution; Rule Out Mosaic (Blood)

Chromosome Analysis, Routine (Amniotic Fluid)

Chromosome Analysis, Routine (Blood)

Chromosome Analysis, Routine (Chorionic Villus Sampling (CVS))

Chromosome Analysis, Routine (Solid Tissue/POC)

Chromosome Analysis, Routine; Rule Out Mosaic (Amniotic Fluid)

Chromosome Analysis, Routine; Rule Out Mosaic (Blood)

Chromosome Analysis, Routine; Rule Out Mosaic (Solid Tissue/POC)

Chromosome Analysis, Routine; Short Study (Amniotic Fluid)

Chromosome Analysis, Routine; Short Study (Blood)

Chromosome Analysis, Routine; Short Study (Chorionic Villus Sampling (CVS))

Chromosome Analysis, Routine; Short Study (Solid Tissue/POC)

CytoScan Xon Microarray: 2-10 Genes

CytoScan Xon Microarray: More than 10 Genes

CytoScan Xon Microarray: Single Gene Analysis

DiGeorge/VCF: (22q11.2) FISH Analysis

FISH analysis for DiGeorge/Velocardiofacial (VCF) syndrome is a cytogenetic test used to identify deletions or duplications in chromosome region 22q11.2. FISH is also utilized to confirm microdeletions identified during high resolution chromosome analysis.

Disorders of Sexual Development: FISH Panel (includes SRY/Xcen & X/Y dual assay probes)

FISH analysis for Disorders of Sexual Development is a cytogenetic test used to identify deletions or duplications in the centromeric regions of the X and Y chromosomes as well as SRY. This test is intended for patients with ambiguous genitalia or suspected sex reversal, and it can detect varying degrees of mosaicism.

Disorders of Sexual Development: FISH Panel, Routine (Buccal) (includes SRY/Xcen & X/Y dual assay probes)

Disorders of Sexual Development: FISH Panel, Rule Out Mosaic (Buccal) (includes SRY/Xcen & X/Y dual assay probes)

Prader-Willi Syndrome: (15q11q13) FISH Analysis

This cytogenetic FISH analysis for Prader-Willi syndrome (15q11q13) is useful when a specific numerical or structural abnormality or microdeletion is suspected.

Pregnancy Loss Microarray

The pregnancy loss microarray is performed using either Affymetrix CytoScan HD or OncoScan. This analysis can detect abnormalities such as aneuploidy, mosaicism as low as 20%, common microdeletion and microduplication syndromes, interstitial and terminal chromosome deletions and duplications greater than >300 kb, and loss of heterozygosity and suspected uniparental disomy (UPD).

Prenatal Microarray

This whole genome SNP microarray detects CNVs and allows for the analysis of loss of heterozygosity which can be useful in identifying uniparental disomy (UPD). Prenatal microarray can be used in cases of fetal anomalies and/or a suspected deletion/duplication syndrome.

Targeted Infertility Microarray

This test analyzes certain regions of the Y chromosome for deletions associated with male infertility.

Trisomy 13 FISH, Rule Out Mosaic (Buccal)

Trisomy 18 FISH, Rule Out Mosaic (Buccal)

Trisomy 21 FISH, Rule Out Mosaic (Buccal)

Trisomy FISH Screen (13,18,21,X,Y) (Amniotic Fluid)

Trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes 13, 18, 21, X, and Y.

Trisomy FISH Screen (13,18,21,X,Y) (Blood)

Trisomy Screen FISH analysis is a cytogenetic test used to identify aneuplodies involving chromosomes 13, 18, 21, X, and Y.

Trisomy FISH Screen (13,18,21,X,Y) (Chorionic Villus Sampling (CVS))

Whole-Genome SNP Microarray: Cytoscan HD Microarray

The Affymetrix CytoScan HD platform allows for genome-wide detection of copy number gains and losses. In addition to detection of copy number variations (CNVs), this SNP array also allows for the analysis of loss of heterozygosity (LOH) which can be useful in identifying uniparental disomy (UPD) as well as autozygosity (identity by descent).