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Test Menu (by Gene)

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





Gene

Disease

Medical Subspecialty

 

A
ABCC8 Congenital Hyperinsulinism Endocrinology
ABCD1 Adrenoleukodystrophy Endocrinology
ABCD1 Primary Adrenal Insufficiency Endocrinology
ACTC Dilated Cardiomyopathy Cardiology
ACTC Hypertrophic Cardiomyopathy Cardiology
ADA Severe Combined Immunodeficiency (SCID) Immunology
AICDA Hyper IgM Syndrome (HIGM2) Immunology
AIRE Autoimmune Polyglandular Syndrome (APS1/APECED) Endocrinology
AIRE Autoimmune Disease or Chronic Mucocutaneous Candidiasis (CMC) Immunology
AIRE Primary Adreanl Insufficiency Endocrinology
APOB Early-Onset Coronary Heart Disease Cardiology
APOB Familial Hypercholesterolemia Endocrinology
AQP2 Nephrogenetic Diabetes Insipidus Endocrinology
AVPR2

Nephrogenic Diabetes Insipidus

Endocrinology

 

B
BBS1 Bardet-Biedl Syndrome Endocrinology
BBS1 Retinal Degeneration Ophthalmology
BBS2 Bardet-Biedl Syndrome Endocrinology
BBS2 Retinal Degeneration Ophthalmology
BBS10 Bardet-Biedl Syndrome Endocrinology
BTK X-linked Agammaglobulinemia (XLA) Immunology

 

C
CASR Familial Hypocalciuric Hypercalcemia Endocrinology
CD3D Severe Combined Immunodeficiency (SCID) Immunology
CD3E Severe Combined Immunodeficiency (SCID) Immunology
CD40 Hyper IgM Syndrome (HIGM3) Immunology
CD40LG Hyper IgM Syndrome (HIGM1) Immunology
CEL Maturity-Onset Diabetes of the Young (MODY) Endocrinology
COL1A1 Osteogenesis Imperfecta (OI) Endocrinology
COL1A2 Osteogenesis Imperfecta (OI) Endocrinology
CYBB Chronic Granulomatous Disease (CGD) Immunology
CYP21A2 Congenital Adrenal Hyperplasia (CAH) Endocrinology
CYP21A2 Primary Adrenal Insufficiency Endocrinology
CYP11B1 Congenital Adrenal Hyperplasia (CAH) Endocrinology
CYP17A1 (CAH) Congenital Adrenal Hyperplasia Endocrinology

 

D
DCLRE1C (ARTEMIS) Severe Combined Immunodeficiency (SCID (RS-SCID, SCIDA), including Omenn Syndrome) Immunology

 

F
FBN1 Marfan Syndrome Cardiology
FGF23 Hypophosphatemic Rickets Endocrinology

 

G
GCK MODY2 Endocrinology
GCK Neonatal Diabetes Mellitus Endocrinology
GCK Congenital Hyperinsulinism Endocrinology
GLUD1 Congenital Hyperinsulinism Endocrinology

 

H
HNF4A MODY1 Endocrinology
HSD3B2 Congenital Adrenal Hyperplasia (CAH) Endocrinology
HSD3B2 Primary Adrenal Insufficiency Endocrinology
HSD11B2 Endocrine Hypertension Endocrinology

 

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
IPF1 MODY4 Endocrinology
IPF1 Neonatal Diabetes Mellitus Endocrinology

 

J
JAK3 Severe Combined Immunodeficiency (SCID) Immunology

 

K
KCNJ11 Congenital Hyperinsulinism Endocrinology
KCNJ11 Neonatal Diabetes Mellitus Endocrinology

 

L
LAMP2 Hypertrophic Cardiomyopathy Cardiology
LDLR Early-Onset Coronary Heart Disease Cardiology
LDLR Familial Hypercholesterolemia Endocrinology
LHCGR Familial Male-Limited Precocious Puberty Endocrinology
LRP5 Idiopathic Osteoporosis (IOP) Endocrinology
LRP5 Osteoporosis-Pseudoglioma Syndrome (OPPG) Endocrinology

 

M
MC4R Early-Onset Obesity Endocrinology
MEN1 Multiple Endocrine Neoplasia Type 1 Endocrinology
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
NR0B1 (DAX1) Adrenal Hypoplasia Congenita Endocrinology
NR0B1 (DAX1) Primary Adrenal Insufficiency Endocrinology

 

P
PHEX Hypophosphatemic Rickets Endocrinology
POU1F1 (PIT1) Combined Pituitary Hormone Deficiency (CPHD) Endocrinology
PRKAG2 Hypertrophic Cardiomyopathy (HCM) Cardiology
PROP1 Combined Pituitary Hormone Deficiency (CPHD) Endocrinology
PTPN11 Noonan Syndrome Endocrinology
PTPN11 Pulmonic Stenosis Cardiology

 

R
RAG1 Severe Combined Immunodeficiency (SCID, including Omenn Syndrome) Immunology
RAG2 Severe Combined Immunodeficiency (SCID, including Omenn Syndrome) Immunology
RET Multiple Endocrine Neoplasia Type 2 Endocrinology

 

S
SDHB Pheochromocytoma Endocrinology
SH2D1A X-linked Lymphoproliferative Disease (XLP) Immunology
STAR Congenital Adrenal Hyperplasia (CAH) Endocrinology

 

T
TCF1 MODY3 Endocrinology
TCF2 (HNF1B) MODY5 Endocrinology
TCF2 (HNF1B) Renal Cysts and Diabetes Syndrome (RCAD) Nephrology
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

 

U
UNG Hyper IgM Syndrome (HIGM5) Immunology

 

V
VHL Renal Cell Carcinoma Nephrology
VHL Retinal Hemangioblastoma Ophthalmology
VHL von Hippel Lindau Disease Endocrinology

 

W
WAS Wiskott-Aldrich Syndrome Immunology

 

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

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