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Test Menu (by Gene)

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



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Gene

Disease

Medical Subspecialty

 

A
ACTC Dilated Cardiomyopathy Cardiology
ACTC Hypertrophic Cardiomyopathy Cardiology
ADA Severe Combined Immunodeficiency (SCID) Immunology
AICDA Hyper IgM Syndrome (HIGM2) Immunology
AIRE Autoimmune Disease or Chronic Mucocutaneous Candidiasis (CMC) Immunology
APOB* Familial Hypercholesterolemia/Early-Onset Coronary Heart Disease Cardiology
ATP7B Wilson's Disease Metabolic
     
*Single Exon Sequencing    

 

B
BBS1 Retinal Degeneration Ophthalmology
BBS2 Retinal Degeneration Ophthalmology
BTK X-linked Agammaglobulinemia (XLA) Immunology

 

C
CD3D Severe Combined Immunodeficiency (SCID) Immunology
CD3E Severe Combined Immunodeficiency (SCID) Immunology
CD40 Hyper IgM Syndrome (HIGM3) Immunology
CD40LG Hyper IgM Syndrome (HIGM1) Immunology
CFTR Chronic Pancreatitis Gasteroenterology
CFTR Congenital Bilateral Absence of the Vas Deferens Urology
CFTR Cystic Fibrosis Pulmonology
CYBB Chronic Granulomatous Disease (CGD) Immunology

 

D
DCLRE1C (ARTEMIS) Severe Combined Immunodeficiency (SCID (RS-SCID, SCIDA), including Omenn Syndrome) Immunology
DSC2 Arrhythmogenic Right Ventricular Dysplasia /Cardiomyopathy (ARVD/C) Cardiology
DSG2 Arrhythmogenic Right Ventricular Dysplasia /Cardiomyopathy (ARVD/C) Cardiology
DSP Arrhythmogenic Right Ventricular Dysplasia /Cardiomyopathy (ARVD/C) Cardiology

 

F
FBN1 Marfan Syndrome Cardiology
FBN1 Thoracic Aortic Aneurysms and Dissections (TAAD) Cardiology

 

G
GALT Galactosemia Metabolic

 

H
HBB Beta Thalassemia Hematology

 

I
IFNGR1 Interferon Gamma Receptor Deficiency Immunology
IFNGR2 Interferon Gamma Receptor Deficiency Immunology
IKBKG (NEMO) Hypohydrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID) Immunology
IL2RG Severe Combined Immunodeficiency (XSCID) Immunology
IL7R Severe Combined Immunodeficiency (SCID, including Omenn Syndrome) Immunology

 

J
JAK3 Severe Combined Immunodeficiency (SCID) Immunology
 

 

L
LAMP2 Hypertrophic Cardiomyopathy Cardiology
LDLR Familial Hypercholesterolemia/Early-Onset Coronary Heart Disease Cardiology
LMNA Dilated Cardiomyopathy (DCM) Cardiology

 

M
MEFV Familial Mediterranean Fever Immunology
MLH1 Hereditary Nonpolyosis Colorectal Cancer (HNPCC) Oncology
MSH2 Hereditary Nonpolyosis Colorectal Cancer (HNPCC) Oncology
MSH6 Hereditary Nonpolyosis Colorectal Cancer (HNPCC) Oncology
MYBPC3 Dilated Cardiomyopathy (DCM) Cardiology
MYBPC3 Hypertrophic Cardiomyopathy (HCM) Cardiology
MYH7 Dilated Cardiomyopathy (DCM) Cardiology
MYH7 Hypertrophic Cardiomyopathy (HCM) Cardiology
MYL2 Hypertrophic Cardiomyopathy (HCM) Cardiology
MYL3 Hypertrophic Cardiomyopathy (HCM) Cardiology

 

N
NKX2-5 Atrial Septal Defect with Atrioventricular Block Cardiology

 

P
PCSK9 Familial Hypercholesterolemia/Early-Onset Coronary Heart Disease Cardiology
PKP2 Arrhythmogenic Right Ventricular Dysplasia /Cardiomyopathy (ARVD/C) Cardiology
PMS2 Hereditary Nonpolyosis Colorectal Cancer (HNPCC) Oncology
PRKAG2 Hypertrophic Cardiomyopathy (HCM) Cardiology
PRSS1 Chronic Pancreatitis Gasteroenterology
PTPN11 Pulmonic Stenosis Cardiology

 

R
RAG1 Severe Combined Immunodeficiency (SCID, including Omenn Syndrome) Immunology
RAG2 Severe Combined Immunodeficiency (SCID, including Omenn Syndrome) Immunology

 

S
SH2D1A X-linked Lymphoproliferative Disease (XLP) Immunology
SPINK1 Chronic Pancreatitis Gasteroenterology
STAT3 Hyper IgE Syndrome (HIES) Immunology

 

T
TCF2 (HNF1B) Renal Cysts and Diabetes Syndrome (RCAD) Nephrology
TGFBR1 Loeys-Dietz Syndrome (LDS) Cardiology
TGFBR1 Thoracic Aortic Aneurysms and Dissections (TAAD) Cardiology
TGFBR2 Loeys-Dietz Syndrome (LDS) Cardiology
TGFBR2 Thoracic Aortic Aneurysms and Dissections (TAAD) Cardiology
TMEM43 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Cardiology
TNFRSF13B (TACI) Common Variable Immunodeficiency (CVID) Immunology
TNNI3 (cTnI) Dilated Cardiomyopathy (DCM) Cardiology
TNNI3 (cTnI) Hypertrophic Cardiomyopathy (HCM) Cardiology
TNNT2 (cTnT) Dilated Cardiomyopathy (DCM) Cardiology
TNNT2 (cTnT) Hypertrophic Cardiomyopathy (HCM) Cardiology
TPM1 Dilated Cardiomyopathy (DCM) Cardiology
TPM1 Hypertrophic Cardiomyopathy (HCM) Cardiology
TTR Transthyretin Amyloidosis Cardiology

 

U
UNG Hyper IgM Syndrome (HIGM5) Immunology

 

V
VHL Renal Cell Carcinoma Nephrology
VHL Retinal Hemangioblastoma Ophthalmology

 

W
WAS Wiskott-Aldrich Syndrome Immunology

 

Z
ZAP70 Severe Combined Immunodeficiency (SCID; Zap-70 Deficiency) Immunology

 

 
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