| 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 |
|
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