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Test Menu (by Disease)

To order or for more information, please click on name of medical subspecialty.



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Disease

Gene

Medical Subspecialty

 

A
Agammaglobulinemia BTK Immunology
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) DSC2 Cardiology
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) DSG2 Cardiology
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) DSP Cardiology
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) PKP2 Cardiology
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) TMEM43 Cardiology
Atrial Septal Defect with Atrioventricular Block NKX2-5 Cardiology
Autoimmune Disease or Chronic Mucocutaneous Candidiasis (CMC) AIRE Immunology

 

B
Bardet-Biedl Syndrome BBS1 Ophthalmology
Bardet-Biedl Syndrome BBS2 Ophthalmology
Beta Thalassemia HBB Hematology

 

C
Chronic Granulomatous Disease (CGD) CYBB Immunology
Chronic Pancreatitis CFTR Gasteroenterology
Chronic Pancreatitis PRSS1 Gasteroenterology
Chronic Pancreatitis SPINK1 Gasteroenterology
Common Variable Immunodeficiency (CVID) TNFRSF13B (TACI) Immunology
Congenital Bilateral Absence of the Vas Deferens (CBAVD) CFTR Urology
Cystic Fibrosis CFTR Pulmonology

 

D
Dilated Cardiomyopathy ACTC Cardiology
Dilated Cardiomyopathy LMNA Cardiology
Dilated Cardiomyopathy MYBPC3 Cardiology
Dilated Cardiomyopathy MYH7 Cardiology
Dilated Cardiomyopathy TNNI3 (cTnI) Cardiology
Dilated Cardiomyopathy TNNT2 (cTnT) Cardiology
Dilated Cardiomyopathy TPM1 Cardiology

 

F
Familial Hypercholesterolemia/Early-Onset Coronary Heart Disease APOB* Cardiology
Familial Hypercholesterolemia/Early-Onset Coronary Heart Disease LDLR Cardiology
Familial Hypercholesterolemia/Early-Onset Coronary Heart Disease PCSK9 Cardiology
Familial Mediterranean Fever MEFV Immunology
     
*Single Exon Sequencing    

 

G
Galactosemia GALT Metabolic

 

H
Hereditary Nonpolyosis Colorectal Cancer (HNPCC) MLH1 Oncology
Hereditary Nonpolyosis Colorectal Cancer (HNPCC) MSH2 Oncology
Hereditary Nonpolyosis Colorectal Cancer (HNPCC) MSH6 Oncology
Hereditary Nonpolyosis Colorectal Cancer (HNPCC) PMS2 Oncology
Hyper IgE Syndrome (HIES) STAT3 Immunology
Hyper IgM Syndrome (HIGM1) CD40LG Immunology
Hyper IgM Syndrome (HIGM2) AICDA Immunology
Hyper IgM Syndrome (HIGM3) CD40 Immunology
Hyper IgM Syndrome (HIGM5) UNG Immunology
Hypertrophic Cardiomyopathy (HCM) ACTC Cardiology
Hypertrophic Cardiomyopathy (HCM) LAMP2 Cardiology
Hypertrophic Cardiomyopathy (HCM) MYBPC3 Cardiology
Hypertrophic Cardiomyopathy (HCM) MYH7 Cardiology
Hypertrophic Cardiomyopathy (HCM) MYL2 Cardiology
Hypertrophic Cardiomyopathy (HCM) MYL3 Cardiology
Hypertrophic Cardiomyopathy (HCM) PRKAG2 Cardiology
Hypertrophic Cardiomyopathy (HCM) TNNI3 (cTnI) Cardiology
Hypertrophic Cardiomyopathy (HCM) TNNT2 (cTnT) Cardiology
Hypertrophic Cardiomyopathy (HCM) TPM1 Cardiology
Hypohydrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID) IKBKG (NEMO) Immunology

 

I
Interferon Gamma Receptor Deficiency IFNGR1 Immunology
Interferon Gamma Receptor Deficiency IFNGR2 Immunology

 

L
Loeys-Dietz Syndrome (LDS) TGFBR1 Cardiology
Loeys-Dietz Syndrome (LDS) TGFBR2 Cardiology

 

M
Marfan Syndrome FBN1 Cardiology

 

P
Pulmonic Stenosis PTPN11 Cardiology

 

R
Renal Cell Carcinoma VHL Nephrology
Renal Cysts and Diabetes Syndrome (RCAD) TCF2 (HNF1B) Nephrology
Retinal Degeneration BBS1 Ophthalmology
Retinal Degeneration BBS2 Ophthalmology
Retinal Hemangioblastoma VHL Ophthalmology

 

S
Severe Combined Immunodeficiency (SCID) ADA Immunology
Severe Combined Immunodeficiency (SCID) CD3D Immunology
Severe Combined Immunodeficiency (SCID) CD3E Immunology
Severe Combined Immunodeficiency (SCID (RS-SCID, SCIDA), including Omenn Syndrome) DCLRE1C (ARTEMIS) Immunology
Severe Combined Immunodeficiency (SCID) IL2RG Immunology
Severe Combined Immunodeficiency (SCID, including Omenn Syndrome) IL7R Immunology
Severe Combined Immunodeficiency (SCID) JAK3 Immunology
Severe Combined Immunodeficiency (SCID, including Omenn Syndrome) RAG1 Immunology
Severe Combined Immunodeficiency (SCID, including Omenn Syndrome) RAG2 Immunology
Severe Combined Immunodeficiency (SCID; Zap-70 Deficiency) ZAP70 Immunology

 

T
Thoratic Aortic Aneurysms and Dissections (TAAD) FBN1 Cardiology
Thoratic Aortic Aneurysms and Dissections (TAAD) TGFBR1 Cardiology
Thoratic Aortic Aneurysms and Dissections (TAAD) TGFBR2 Cardiology
Transthyretin Amyloidosis TTR Cardiology

 

 

W
Wilson's Disease ATP7B Metabolic
Wiskott-Aldrich Syndrome WAS Immunology


X-Linked
X-linked Agammaglobulinemia (XLA) BTK Immunology
X-linked Chronic Granulomatous Disease (XCGD) CYBB Immunology
Hyper IgM Syndrome (HIGM1) CD40LG Immunology
Hypohydrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID) IKBKG (NEMO) Immunology
Severe Combined Immunodeficiency (XSCID) IL2RG Immunology
Wiskott-Aldrich Syndrome (WAS) WAS Immunology
X-linked Lymphoproliferative Disease (XLP) SH2D1A Immunology

 

 
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