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Test # Test Name Additional Information
G6PD Deficiency
2007163 Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing Additional Technical Information
0051684 Glucose-6-Phosphate Dehydrogenase (G6PD), DNA Mutation, African Alleles (A376G, G202A)  
Galactosemia
0051175 Galactosemia, (GALT) Enzyme Activity & 9 Mutations
0051176 Galactosemia, (GALT) 9 Mutations  
2006697 GALT (Galactosemia) Sequencing Additional Technical Information
0051270 Galactosemia, (GALT ) 9 Mutations, Fetal  
Gastrointestinal Cancer
0051750 BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation
2002499 MLH1 Promoter Methylation, Paraffin Additional Technical Information
0049302 Mismatch Repair by Immunohistochemistry Additional Technical Information
0051740 Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR Additional Technical Information
2005270 Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation Additional Technical Information
2004915 Familial Adenomatous Polyposis Panel: APC Sequencing, APC Deletion/Duplication, and MYH 2 Mutations
2004863 Familial Adenomatous Polyposis (APC) Sequencing  
2006191 MUTYH-Associated Polyposis (MUTYH) Sequencing  
2004992 Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication  
2004988 Juvenile Polyposis (BMPR1A) Sequencing  
2013449 Hereditary Gastrointestinal Cancer Panel, Sequencing and Deletion/Duplication
2012032 Hereditary Cancer Panel, Sequencing and Deletion/Duplication
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Additional Technical Information
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Additional Technical Information
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Additional Technical Information
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication
2001728 HNPCC/Lynch Syndrome Deletion/Duplication Additional Technical Information
2009302 Li-Fraumeni (TP53) Sequencing
0051510 Juvenile Polyposis (SMAD4) Sequencing  
2008398 Peutz-Jeghers Syndrome (STK11) Sequencing and Deletion/Duplication
2008394 Peutz-Jeghers Syndrome (STK11) Sequencing  
Gaucher Disease
3001648 Gaucher Disease (GBA) Sequencing
0051438 Gaucher Disease (GBA), 8 Variants  
GLI3-Related Disorders
2011465 GLI3-Related Disorders (GLI3) Sequencing and Deletion/Duplication
2011470 GLI3-related disorders (GLI3) Sequencing  
Hearing Loss
2001992 Hearing Loss, Nonsyndromic Panel (GJB2) Sequencing, (GJB6) 2 Deletions and Mitochondrial DNA 2 Mutations
0051374 Connexin 26 (GJB2) Sequencing
2001956 Hearing Loss, Nonsyndromic, Connexin 30 (GJB6) 2 Deletions Additional Technical Information
2008803 Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication
Hemoglobin Lepore
2004686 Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations
Hemoglobinopathies
2005792 Hemoglobin Evaluation Reflexive Cascade
0050578 Beta Globin (HBB) Gene Sequencing
2010117 Beta Globin (HBB) Sequencing and Deletion/Duplication
2010113 Beta Globin (HBB) Deletion/Duplication
2011622 Alpha Globin (HBA1 and HBA2) Deletion/Duplication
0051495 Alpha Thalassemia (HBA1 & HBA2) 7 Deletions
3001957 Gamma Globin (HBG1 and HBG2) Sequencing
2004686 Hemoglobin Lepore (HBD-HBB Fusion) 3 Mutations
Hemophilia A
2001614 Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication
2001759 Hemophilia A (F8) 2 Inversions
2001747 Hemophilia A (F8) Sequencing
2001755 Hemophilia A (F8) 2 Inversions, Fetal
Hemophilia B
2001578 Hemophilia B (F9) Sequencing
2010494 Hemophilia B (F9) Sequencing and Deletion/Duplication
Hemophilias
2001614 Hemophilia A (F8) 2 Inversions with Reflex to Sequencing and Reflex to Deletion/Duplication
2001759 Hemophilia A (F8) 2 Inversions
2001747 Hemophilia A (F8) Sequencing
2001755 Hemophilia A (F8) 2 Inversions, Fetal
2001578 Hemophilia B (F9) Sequencing
2005480 von Willebrand Disease, Type 2A (VWF) Sequencing Exon 28 with Reflex to 9 Exons
2005494 von Willebrand Disease, Type 2N (VWF) Sequencing  
2005490 von Willebrand Disease, Type 2M (VWF) Sequencing  
2005486 von Willebrand Disease, Type 2B (VWF) Sequencing  
2005476 von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations  
2010494 Hemophilia B (F9) Sequencing and Deletion/Duplication
Hereditary Hemochromatosis
0055656 Hereditary Hemochromatosis Mutation Detection (C282Y, H63D, & S65C)
Hereditary Hemolytic Anemia
2012052 Hereditary Hemolytic Anemia Panel, Sequencing
Hereditary Hemorrhagic Telangiectasia (HHT)
2009337 Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication  
2009008 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication with Reflex to Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication
0051382 ACVRL1 and ENG Sequencing and Deletion/Duplication  
0051381 ACVRL1 and ENG Sequencing  
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication
0051510 Juvenile Polyposis (SMAD4) Sequencing  
2010015 Telangiectasia Syndrome (BMP9/GDF2) Sequencing
2007384 Vascular Malformations Panel, Sequencing and Deletion/Duplication, 10 Genes
2007390 Vascular Malformations Sequencing, 10 Genes  
2007380 Vascular Malformations Deletion/Duplication, 10 Genes  
Hereditary Non-Polyposis Colon Cancer (HNPCC)
0051750 BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation
2002499 MLH1 Promoter Methylation, Paraffin Additional Technical Information
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Additional Technical Information
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Additional Technical Information
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Additional Technical Information
2001728 HNPCC/Lynch Syndrome Deletion/Duplication Additional Technical Information
Hereditary Paraganglioma-Pheochromocytoma Syndromes
2007167 Hereditary Paraganglioma-Pheochromocytoma (SDHBSDHC, and SDHD) Sequencing and Deletion/Duplication Panel
2006948 SDHB with Interpretation by Immunohistochemistry  
2011461 Hereditary Paraganglioma-Pheochromocytoma (SDHA) Sequencing Additional Technical Information
2007108 Hereditary Paraganglioma-Pheochromocytoma (SDHB) Sequencing and Deletion/Duplication Additional Technical Information
2007117 Hereditary Paraganglioma-Pheochromocytoma (SDHC) Sequencing and Deletion/Duplication Additional Technical Information
2007122 Hereditary Paraganglioma-Pheochromocytoma (SDHD) Sequencing and Deletion/Duplication Additional Technical Information
HLA-B*15:02 (Carbamazepine Hypersensitivity) Genotyping
2012049 HLA-B*15:02 Genotyping, Carbamazepine Hypersensitivity
HLA-B*5701 (Abacavir Sensitivity) Genotyping
2002429 HLA-B*5701 Associated Variant Genotyping for Abacavir Sensitivity
HLA-B27 (Ankylosing Spondylitis) Genotyping
0050392 Ankylosing Spondylitis (HLA-B27) Genotyping
Holoprosencephaly
2008848 Holoprosencephaly Panel, Sequencing and Deletion/Duplication  
2008863 Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal
Huntington Disease
0040018 Huntington Disease (HD) Mutation by PCR
Hypochondroplasia
0051367 Hypochondroplasia (FGFR3) 2 Mutations
Insulin Resistance Syndromes
2006274 Inherited Insulin Resistance Syndromes (INSR) Sequencing Additional Technical Information
Interleukin 28 B Associated SNP—Genotyping
2004680 Interleukin 28 B (IL28B)—Associated Variants, 2SNPs
Juvenile Polyposis
2004992 Juvenile Polyposis (BMPR1A) Sequencing and Deletion/Duplication  
2004988 Juvenile Polyposis (BMPR1A) Sequencing  
2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication
0051510 Juvenile Polyposis (SMAD4) Sequencing  
Kabuki Syndrome
2009306 Kabuki Syndrome (KMT2D) Sequencing
Kell Antigen Genotyping
3002001 Kell K/k Antigen (KEL) Genotyping
Legius Syndrome
2008347 Legius Syndrome (SPRED1) Sequencing and Deletion/Duplication
2002945 Legius Syndrome (SPRED1) Sequencing
Li-Fraumeni Syndrome
2009313 Li-Fraumeni (TP53) Sequencing and Deletion/Duplication
2009302 Li-Fraumeni (TP53) Sequencing
LMNA–Related Disorders
2004543 LMNA-Related Disorders (LMNA) Sequencing
2004539 LMNA-Related Disorders (LMNA) Deletion/Duplication
Loeys-Dietz Syndrome
2002705 TGFBR1 & TGFBR2 Sequencing
Lynch Syndrome
0051750 BRAF Codon 600 Mutation Detection with Reflex to MLH1 Promoter Methylation
2002499 MLH1 Promoter Methylation, Paraffin Additional Technical Information
0049302 Mismatch Repair by Immunohistochemistry Additional Technical Information
0051740 Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR Additional Technical Information
2005270 Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation Additional Technical Information
0051650 HNPCC/Lynch Syndrome (MLH1) Sequencing and Deletion/Duplication
0051654 HNPCC/Lynch Syndrome (MSH2) Sequencing and Deletion/Duplication Additional Technical Information
0051656 HNPCC/Lynch Syndrome (MSH6) Sequencing and Deletion/Duplication Additional Technical Information
0051737 HNPCC/Lynch Syndrome (PMS2) Sequencing and Deletion/Duplication Additional Technical Information
2001728 HNPCC/Lynch Syndrome Deletion/Duplication Additional Technical Information
Marfan Syndrome and Marfan/FBN1-Related Disorders
2005584 Marfan Syndrome (FBN1) Sequencing and Deletion/Duplication
2005589 Marfan Syndrome (FBN1) Sequencing  
Medium Chain Acyl-CoA Dehydrogenase (MCAD)
0051205 Medium Chain Acyl-CoA Dehydrogenase (ACADM) 2 Mutations
0051758 Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM) Sequencing Additional Technical Information
Menkes and Occipital Horn Syndromes
2007872 ATP7A-Related Copper Transport Disorders (ATP7A), Sequencing  
Methylenetetrahydrofolate Reductase (MTHFR)
0055655 Methylenetetrahydrofolate Reductase (MTHFR) 2 Mutations
Microsatellite Instability (MSI)
0049302 Mismatch Repair by Immunohistochemistry Additional Technical Information
0051740 Microsatellite Instability (MSI), HNPCC/Lynch Syndrome, by PCR Additional Technical Information
2005270 Mismatch Repair by Immunohistochemistry with Reflex to MLH1 Promoter Methylation Additional Technical Information
Molar Pregnancy
0051755 Molar Pregnancy, 16 DNA Markers  
Mucolipidosis IV
0051448 Mucolipidosis Type IV (MCOLN1), 2 Variants
Multiple Endocrine Neoplasia Type 1 (MEN1)
2005360 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing and Deletion/Duplication
2005359 Multiple Endocrine Neoplasia Type 1 (MEN1) Sequencing  
Multiple Endocrine Neoplasia Type 2 (MEN2)
0051390 Multiple Endocrine Neoplasia Type 2 (MEN2), RET Gene Mutations by Sequencing
Muscular Dystrophy
2011241 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication with Reflex to Sequencing
2011235 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication
2011153 Duchenne/Becker Muscular Dystrophy (DMD) Sequencing
2011231 Duchenne/Becker Muscular Dystrophy (DMD) Deletion/Duplication, Fetal
3001907 Myotonic Dystrophy Type 1 (DMPK) CTG Expansion