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)
• MLH1 gene, Somatic Promoter Methylation Analysis
• Immunohistochemistry Analysis (IHC: MLH1, MSH2, MSH6, PMS2)
• Breast Cancer Susceptibility (ATM, CDH1, CHEK2, TP53, PALB2, PTEN, and STK11)
• Onco-44-Gene Panel (Multiple types of cancer including: Melanoma, Breast Cancer, Ovarian Cancer, Colorectal Cancer, Lung Cancer, GIST, Acute Myeloid Leukemia (AML), Chronic Myelogenous Leukemia (CML), and Myeloproliferative Disorder (MPD) )

• Breast Cancer (CHEK2, PALB2)
• Breast Cancer, Lobular (CDH1)
• Colon Cancer, Signet Ring (CDH1)
• Colorectal cancer(APC, MUTYH )
• Fanconi Anemia (CDH1)
• Hereditary Nonpolyposis Colorectal Cancer (MLH1, MSH2, MSH6, MSI, IHC)
• Hereditary Mixed Polyposis Syndrome 2  (BMPR1A)
• Hereditary Nonpolyposis Colorectal Cancer (EPCAM)
• Juvenile Polyposis Syndrome (BMPR1A, SMAD4)
• Juvenile Polyposis Syndrome / Hereditary Hemorrhagic Telangiectasia Syndrome (SMAD4)
• Leukemias and Lymphomas: T-PLL, B-CLL, Mantle Cell Lymphomas (ATM)
• Li-Fraumeni Syndrome (p53, CHEK2)
• Li-Fraumeni-like Syndrome (p53, CHEK2) 
• Pancreatic Cancer (PALB2)
• Peutz-Jeghers syndrome (STK11)
• PTEN hamartoma tumor syndrome (PTEN)
• 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

• V-kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog (C-Kit)
• Platelet-derived Growth Factor Receptor, Alpha Polypeptide (PDGFRA)

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)