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 (SDHB, SDHC, 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 |
|