Tests

Test Menu

 Genetic Disease Test Menu (by disorder):

Alpha Globin Gene Analysis
Angelman syndrome (Methylation PCR) 
Angelman syndrome (UBE3A sequencing) 
Beta Globin disorders (HBB sequencing to identify beta-thalassemia, sickle cell (hgb S) and hgb C)
Biotinidase deficiency (BTD sequencing)
Cystic fibrosis (CFTR) 36 Pathogenic Variants Panel (includes ACMG recommended pathogenic variants panel; sample reflexed to Intron 8 poly T analysis when appropriate)
Fragile X Syndrome (FMR1)
Galactosemia (GALT) 5 pathogenic variants
Gilbert disease (UGT1A1) genotyping
Hereditary Hemochromatosis (HFE) 3 pathogenic variants
Huntington disease (HD)
Medium Chain Acyl CoA Dehydrogenase (MCAD) deficiency (ACADM sequencing)
Prader-Willi syndrome (Methylation PCR)
Rett Syndrome (MECP2 sequencing)
Rett Syndrome (MECP2 deletion/duplication analysis)
Sickle Cell Disease (HBB genotyping) Hgb S & Hgb C only
Thrombophilia (see specific genes below)
         Factor V Leiden (F5) R506Q
         Methylene Tetrahydrofolate Reductase (MTHFR) 2 pathogenic variants 
         Plasminogen activator inhibitor (PAI-1) genotyping
         Prothrombin (F2) G20210A
Targeted sequencing (known single variant analysis)
Targeted sequencing (known dual variant analysis)

Molecular Oncology Test Menu:

B-cell clonality
BCR-ABL1 gene rearrangement, quantitative
BCR-ABL1 Kinase Domain Sequence Analysis
BRAF genotyping (V600E, V600K, V600D)
EGFR genotyping
FLT3 genotyping
JAK2 Exon 12 Sequencing
JAK2 Genotyping (V617F pathogenic variant)
KRAS genotyping (codons 12,13,61)
Microsatellite Instability
MLH1 Promoter Methylation Studies
NPM1 genotyping, see also FLT3 genotyping
T-cell clonality

Pharmacogenomic Test Menu:

Irinotecan toxicity prediction (UGT1A1 genotyping)
Methotrexate toxicity prediction (MTHFR - 2  pathogenic variants)
TPMT genotyping (Thiopurine Toxicity Prediction)