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DNA Testing Services

DNA testing services are listed below by gene  and by disease . Click on a test for a brief description with a link to a detailed assay summary which includes specimen requirements, order codes and CPT codes .
 
For the current price list, please email us at cmdl@coh.org with your name, title and institution. Please review the Logistics , Billing , and Frequently Asked Questions  pages. If you have questions, please Contact Us . If you are a patient, please see our Patient Information . Some of our services are described in brochures  which are available for download or by mail.
 
Multiple and complementary tests are available for comprehensive diagnostic testing. For most genes, sequence analysis covers the entire coding region and associated splice junctions. For many genes, deletion/duplication analysis is also available.
DNA Testing Services by Gene Symbol (Gene Name)
 
Complementary Tests (Gene(s) Tested)
Molecular Oncology Testing Services
Solid tumor hotspot mutation panels
 
Genetic Testing Services by Disease (Genes Tested)
Cancer Predisposition
Coagulopathies
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • von Willebrand Disease type 2N Normandy (VWFNa)
  • Venous Thromboembolism (F5)
Connective Tissue Disorders
  • Marfan Syndrome/MASS/Familial Ectopia Lentis (FBN1)
  • Loeys-Dietz Syndrome (TGFBR1, TGFBR2)
Other Hereditary Disorders 
  • Ataxia Telangiectasia (ATM)
  • Duchenne and Becker Muscular Dystrophy (DMD)
  • LMNA (Lamin A/C) related disorders (LMNA)
  • Rett Syndrome/male infantile encephallitis (MECP2, STK9/CDKL5)
 

By Gene

DNA testing services are listed below. Click on a test for a brief description with a link to a detailed assay summary which includes specimen requirements.
 
For the current price list, please email us at cmdl@coh.org with your name, title and institution. Some of our services are described in  which are available for download or by mail.
 
Multiple and complementary tests are available for comprehensive diagnostic testing. For most genes, sequence analysis covers the entire coding region and associated splice junctions. For many genes, deletion/duplication analysis is also available.
 
DNA Testing Services by Gene Symbol (Gene Name)
 

By Disease

DNA testing services are listed below by gene and by disease . Click on a test for a brief description with a link to a detailed assay summary which includes specimen requirements, order codes and CPT codes .
 
For the current price list, please email us at cmdl@coh.org with your name, title and institution. Please review the Logistics , Billing , and Frequently Asked Questions  pages. If you have questions, please Contact Us . If you are a patient, please see our Patient Information . Some of our services are described in brochures  which are available for download or by mail.
 
Multiple and complementary tests are available for comprehensive diagnostic testing. For most genes, sequence analysis covers the entire coding region and associated splice junctions. For many genes, deletion/duplication analysis is also available.
 
Complementary Tests (Gene(s) Tested)
Molecular Oncology Testing Services
Solid tumor hotspot mutation panels
 
Genetic Testing Services by Disease (Genes Tested)
Cancer Predisposition
Coagulopathies
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • von Willebrand Disease type 2N Normandy (VWFNa)
  • Venous Thromboembolism (F5)
Connective Tissue Disorders
  • Marfan Syndrome/MASS/Familial Ectopia Lentis (FBN1)
  • Loeys-Dietz Syndrome (TGFBR1, TGFBR2)
 
Other Hereditary Disorders 
  • Ataxia Telangiectasia (ATM)
  • Duchenne and Becker Muscular Dystrophy (DMD)
  • LMNA (Lamin A/C) related disorders (LMNA)
  • Rett Syndrome/male infantile encephallitis (MECP2, STK9/CDKL5)
 

By Panels

DNA testing services are listed below by  and by . Click on a test for a brief description with a link to a detailed assay summary which includes specimen requirements, .
 
For the current price list, please email us at cmdl@coh.org with your name, title and institution. Please review the , , and  pages. If you have questions, please . If you are a patient, please see our . Some of our services are described in  which are available for download or by mail.
 
Multiple and complementary tests are available for comprehensive diagnostic testing. For most genes, sequence analysis covers the entire coding region and associated splice junctions. For many genes, deletion/duplication analysis is also available.
 
(Targeted analysis of ~2800 COSMIC mutations of oncogenes and tumor suppressor genes frequently mutated in human cancers)
 
(Targeted analysis for ~1700 hotspot mutations within genes mutated in lung cancers (AKT1, ALK, BRAF, EGFR, ERBB2, KRAS, MET, NRAS, PIK3CA, PTEN, STK11, TP53))
 
(Targeted analysis for ~425 hotspot mutations within genes mutated in melanomas (BRAF, CTNNB1, GNA11, GNAQ, KIT, NRAS, KRAS, HRAS))
 
(Targeted analysis for ~469 hotspot mutations within genes frequently mutated in colorectal cancers (AKT1, BRAF, KRAS, NRAS, PIK3CA, PTEN, SMAD4, SRC))
 
(Targeted analysis for 124 cancer hotspot mutations in the KRAS, NRAS and HRAS genes by next generation sequencing.)
 
(MLH1, MSH2, MSH6, PMS2: Seq+MLPA, EPCAM: MLPA)
 
(PTEN, STK11, CHEK2, TP53, PALB2, ATM and CDH1, full gene sequencing)
 
(HNPCC Immunohistochemistry- MLH1, MSH2, MSH6, PMS2)
 
(APC and MUTYH: Full gene sequencing, APC: MLPA)
 
 

Suggest an MDL Test

Tests Offered

DNA Testing Services

DNA testing services are listed below by gene  and by disease . Click on a test for a brief description with a link to a detailed assay summary which includes specimen requirements, order codes and CPT codes .
 
For the current price list, please email us at cmdl@coh.org with your name, title and institution. Please review the Logistics , Billing , and Frequently Asked Questions  pages. If you have questions, please Contact Us . If you are a patient, please see our Patient Information . Some of our services are described in brochures  which are available for download or by mail.
 
Multiple and complementary tests are available for comprehensive diagnostic testing. For most genes, sequence analysis covers the entire coding region and associated splice junctions. For many genes, deletion/duplication analysis is also available.
DNA Testing Services by Gene Symbol (Gene Name)
 
Complementary Tests (Gene(s) Tested)
Molecular Oncology Testing Services
Solid tumor hotspot mutation panels
 
Genetic Testing Services by Disease (Genes Tested)
Cancer Predisposition
Coagulopathies
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • von Willebrand Disease type 2N Normandy (VWFNa)
  • Venous Thromboembolism (F5)
Connective Tissue Disorders
  • Marfan Syndrome/MASS/Familial Ectopia Lentis (FBN1)
  • Loeys-Dietz Syndrome (TGFBR1, TGFBR2)
Other Hereditary Disorders 
  • Ataxia Telangiectasia (ATM)
  • Duchenne and Becker Muscular Dystrophy (DMD)
  • LMNA (Lamin A/C) related disorders (LMNA)
  • Rett Syndrome/male infantile encephallitis (MECP2, STK9/CDKL5)
 

By Gene

By Gene

DNA testing services are listed below. Click on a test for a brief description with a link to a detailed assay summary which includes specimen requirements.
 
For the current price list, please email us at cmdl@coh.org with your name, title and institution. Some of our services are described in  which are available for download or by mail.
 
Multiple and complementary tests are available for comprehensive diagnostic testing. For most genes, sequence analysis covers the entire coding region and associated splice junctions. For many genes, deletion/duplication analysis is also available.
 
DNA Testing Services by Gene Symbol (Gene Name)
 

By Disease

By Disease

DNA testing services are listed below by gene and by disease . Click on a test for a brief description with a link to a detailed assay summary which includes specimen requirements, order codes and CPT codes .
 
For the current price list, please email us at cmdl@coh.org with your name, title and institution. Please review the Logistics , Billing , and Frequently Asked Questions  pages. If you have questions, please Contact Us . If you are a patient, please see our Patient Information . Some of our services are described in brochures  which are available for download or by mail.
 
Multiple and complementary tests are available for comprehensive diagnostic testing. For most genes, sequence analysis covers the entire coding region and associated splice junctions. For many genes, deletion/duplication analysis is also available.
 
Complementary Tests (Gene(s) Tested)
Molecular Oncology Testing Services
Solid tumor hotspot mutation panels
 
Genetic Testing Services by Disease (Genes Tested)
Cancer Predisposition
Coagulopathies
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • von Willebrand Disease type 2N Normandy (VWFNa)
  • Venous Thromboembolism (F5)
Connective Tissue Disorders
  • Marfan Syndrome/MASS/Familial Ectopia Lentis (FBN1)
  • Loeys-Dietz Syndrome (TGFBR1, TGFBR2)
 
Other Hereditary Disorders 
  • Ataxia Telangiectasia (ATM)
  • Duchenne and Becker Muscular Dystrophy (DMD)
  • LMNA (Lamin A/C) related disorders (LMNA)
  • Rett Syndrome/male infantile encephallitis (MECP2, STK9/CDKL5)
 

By Panels

By Panels

DNA testing services are listed below by  and by . Click on a test for a brief description with a link to a detailed assay summary which includes specimen requirements, .
 
For the current price list, please email us at cmdl@coh.org with your name, title and institution. Please review the , , and  pages. If you have questions, please . If you are a patient, please see our . Some of our services are described in  which are available for download or by mail.
 
Multiple and complementary tests are available for comprehensive diagnostic testing. For most genes, sequence analysis covers the entire coding region and associated splice junctions. For many genes, deletion/duplication analysis is also available.
 
(Targeted analysis of ~2800 COSMIC mutations of oncogenes and tumor suppressor genes frequently mutated in human cancers)
 
(Targeted analysis for ~1700 hotspot mutations within genes mutated in lung cancers (AKT1, ALK, BRAF, EGFR, ERBB2, KRAS, MET, NRAS, PIK3CA, PTEN, STK11, TP53))
 
(Targeted analysis for ~425 hotspot mutations within genes mutated in melanomas (BRAF, CTNNB1, GNA11, GNAQ, KIT, NRAS, KRAS, HRAS))
 
(Targeted analysis for ~469 hotspot mutations within genes frequently mutated in colorectal cancers (AKT1, BRAF, KRAS, NRAS, PIK3CA, PTEN, SMAD4, SRC))
 
(Targeted analysis for 124 cancer hotspot mutations in the KRAS, NRAS and HRAS genes by next generation sequencing.)
 
(MLH1, MSH2, MSH6, PMS2: Seq+MLPA, EPCAM: MLPA)
 
(PTEN, STK11, CHEK2, TP53, PALB2, ATM and CDH1, full gene sequencing)
 
(HNPCC Immunohistochemistry- MLH1, MSH2, MSH6, PMS2)
 
(APC and MUTYH: Full gene sequencing, APC: MLPA)
 
 

Suggest a Test

Suggest an MDL Test

CMDL Cancer Predisposition
Cancer Predisposition
 
Neuropsychiatric Diseases
Neuropsychiatric Diseases

NLGN3

NLGN4

STK9/CDKL5

MECP2
 
Pharmacogenetics/ Personalized Medicine
Pharmacogenetics/Personalized Medicine

EGFR-NGS

KRAS-NGS
 
 
Muscular Dystrophies/Cardiomyopathies
Connective Tissue Disorders
Coagulopathies