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.
Test Finders
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.
mtDNA Targeted Analysis with Heteroplasmy: Known Familial Mutation
Targeted Next Generation Sequencing (NGS) analysis for a specific variant previously identified in a family member. Use of NGS allows for the reporting of heteroplasmy level.
Note: This test may not detect variants with a heteroplasmy of less than 10%.
mtDNA Targeted Analysis: Known Familial Mutation
Targeted Sanger sequencing analysis for a specific variant previously identified in a family member.
Note: Levels of mutant heteroplasmy 20% or lower may not be detected by Sanger. Additionally, levels of mutant heteroplasmy above 80% will appear homoplasmic by Sanger sequencing.
Prenatal Exome Sequencing
Prenatal exome sequencing (PES) is available for patients with abnormal findings on ultrasound. This is a phenotype-driven analysis where only pathogenic and likely pathogenic variants related to the reported clinical features will be included in the prenatal report.
PES can be requested as a duo (maternal and fetal sample) or as a trio (maternal, paternal, and fetal sample). Maternal Cell Contamination (MCC) is required for this test.
Reanalysis may be requested at no additional charge after the baby is born. Any new medical information should be reported to the lab upon request for reanalysis. A new consent form will be required for reanalysis. Any changes suspected of causing the concerns identified during pregnancy will require a postnatal sample for confirmation.
Cholestasis NGS Panel
This panel of 73 genes is intended for patients with cholestasis, and it is performed by Next Generation Sequencing (NGS).
Disorders of Sexual Development: FISH Panel, Routine (Buccal) (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.
Disorders of Sexual Development: FISH Panel, Rule Out Mosaic (Buccal) (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.
Early Infantile Epileptic Encephalopathy NGS Panel
This panel of 86 genes is intended for patients with a diagnosis or clinical suspicion of early infantile epileptic encephalopathy and is performed by Next Generation Sequencing (NGS).
