For the current price list, please email us at mdl@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 page. Some of our services are described in brochures which are available for download or by mail.

Multiple and complementary tests are often available for comprehensive diagnostic testing. For most genes, the regions of likely functional significance are sequenced in a manner that detects virtually all mutations within the coding and splice site regions. Tests for heterozygous deletions are available for some genes on our test menu. 

• X-Linked Mental Retardation Test, Non-Syndromic (ARX, DLG3, FACL4, FTSJ1, JARID1C, PQBP1, TM4SF2, ZNF41)
• Microsatellite Instability Analysis (MSI)
• Immunohistochemistry Analysis (IHC: MLH1, MSH2, MSH6, PMS2)

• Breast Cancer (CHEK2)
• Breast Cancer, Lobular (CDH1)
• Colon Cancer, Signet Ring (CDH1)
• Gastric Cancer, Diffuse, Familial (CDH1)
• Hereditary Nonpolyposis Colorectal Cancer (MLH1, MSH2, MSH6, MSI, IHC)
• Leukemias and Lymphomas: T-PLL, B-CLL, Mantle Cell Lymphomas (ATM)
• Li-Fraumeni Syndrome (p53, CHEK2)
• Li-Fraumeni-like Syndrome (p53, CHEK2) 
• Prostate Cancer (CHEK2)

• CBAVD (CFTR)
• Cystic Fibrosis (CFTR)

Muscular Dystrophies/Cardiomyopathies 

• Charcot-Marie-Tooth Disorder Type 2 (Lamin A/C)
• Dilated Cardiomyopathy (Lamin A/C, Dystrophin)
• Duchenne and Becker Muscular Dystrophy (Dystrophin)
• Emery-Dreifuss Muscular Dystrophy (Emerin, Lamin A/C)
• Familial Partial Lipodystrophy (Lamin A/C)
• Limb-Girdle Muscular Dystrophy (Lamin A/C)

• Alpha Thalassemia/Mental Retardation Syndrome (ATRX)
• Alpha Thalassemia Myelodysplasia Syndrome (ATRX)
• Asperger's Syndrome (NLGN3, NLGN4)
• Autism (NLGN3, NLGN4, STK9/CDKL5)
• Carpenter-Waziri Syndrome (ATRX)
• Cerebropalatocardiac (Hamel) Syndrome (PQBP1)
• Hamel (cerebropalatocardiac) Syndrome (PQBP1)
• Infantile Encephalitis in males (MECP2)
• Juberg-Marsidi Syndrome (ATRX)
• Partington Syndrome (ARX)
• Pervasive Developmental Disorder (MECP2)
• Proud Syndrome (ARX)
• Renpenning Syndrome (PQBP1)
• Rett Syndrome (MECP2, STK9/CDKL5)
• Smith-Fineman-Myers Syndrome (ATRX)
• Sutherland-Haan Syndrome (PQBP1)
• West Syndrome (Infantile spasms) (ARX, STK9/CDKL5)
• X-linked lissencephaly with abnormal genitalia (XLAG) Syndrome (ARX)
• X-Linked Mental Retardation, Non-Syndromic (ARX, DLG3, FACL4, FTSJ1, JARID1C, PQBP1, TM4SF2, ZNF41, XLMR Test of the above genes, STK9/CDKL5)

• Non-small cell lung cancer (NSCLC) responsiveness to Iressa (Gefitinib) or Tarceva (Erlotinib) (EGFR)
• KRAS
• BRAF

Selected Inborn Errors of Metabolism 

• Aortic Aneurysm (FBN1)
• Ataxia Telangiectasia (ATM)
• Cystic Fibrosis (CFTR)
• Ectopia Lentis, Familial (FBN1)
• Idiopathic Chronic Pancreatitis (CFTR)
• Marfan Syndrome (FBN1 and TGFBR2)
• Progeria (Lamin A/C)