Correlagen Diseases

Test Menu (by Disease)

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

Disease	Gene	Medical Subspecialty

A
Adrenal Hypoplasia Congenita	NR0B1 (DAX1)	Endocrinology
Adrenoleukodystrophy	ABCD1	Endocrinology
Agammaglobulinemia	BTK	Immunology
Atrial Septal Defect with Atrioventricular Block	NKX2-5	Cardiology
Autoimmune Polyglandular Syndrome (APS1/APECED)	AIRE	Endocrinology
Autoimmune Disease or Chronic Mucocutaneous Candidiasis (CMC)	AIRE	Immunology
B
Bardet-Biedl Syndrome	BBS1	Ophthalmology, Endocrinology
Bardet-Biedl Syndrome	BBS2	Ophthalmology, Endocrinology
Bardet-Biedl Syndrome	BBS10	Endocrinology
C
Combined Pituitary Hormone Deficiency (CPHD)	POU1F1 (PIT1)	Endocrinology
Combined Pituitary Hormone Deficiency (CPHD)	PROP1	Endocrinology
Congenital Adrenal Hyperplasia	CYP11B1	Endocrinology
Congenital Adrenal Hyperplasia	CYP17A1	Endocrinology
Congenital Adrenal Hyperplasia	CYP21A2	Endocrinology
Congenital Adrenal Hyperplasia	HSD3B2	Endocrinology
Congenital Adrenal Hyperplasia	STAR	Endocrinology
Congenital Hyperinsulinism	ABCC8	Endocrinology
Congenital Hyperinsulinism	GCK	Endocrinology
Congenital Hyperinsulinism	GLUD1	Endocrinology
Congenital Hyperinsulinism	KCNJ11	Endocrinology
Chronic Granulomatous Disease (CGD)	CYBB	Immunology
Common Variable Immunodeficiency (CVID)	TNFRSF13B (TACI)	Immunology
D
Dilated Cardiomyopathy	ACTC	Cardiology
Dilated Cardiomyopathy	MYBPC3	Cardiology
Dilated Cardiomyopathy	MYH7	Cardiology
Dilated Cardiomyopathy	TNNI3 (cTnI)	Cardiology
Dilated Cardiomyopathy	TNNT2 (cTnT)	Cardiology
Dilated Cardiomyopathy	TPM1	Cardiology
E
Early-Onset Coronary Heart Disease	APOB	Cardiology
Early-Onset Coronary Heart Disease	LDLR	Cardiology
Early-Onset Obesity	MC4R	Endocrinology
Endocrine Hypertension	HSD11B2	Endocrinology
F
Familial Hypocalciuric Hypercalcemia	CASR	Endocrinology
Familial Male-Limited Precocious Puberty	LHCGR	Endocrinology
H
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
Hypophosphatemic Rickets	FGF23	Endocrinology
Hypophosphatemic Rickets	PHEX	Endocrinology
I
Idiopathic Osteoporosis (IOP)	LRP5	Endocrinology
Interferon Gamma Receptor Deficiency	IFNGR1	Immunology
Interferon Gamma Receptor Deficiency	IFNGR2	Immunology
M
Marfan Syndrome	FBN1	Cardiology
MODY1	HNF4A	Endocrinology
MODY2	GCK	Endocrinology
MODY3	TCF1	Endocrinology
MODY4	IPF1	Endocrinology
MODY5	TCF2 (HNF1B)	Endocrinology
MODY8	CEL	Endocrinology
Multiple Endocrine Neoplasia Type 1	MEN1	Endocrinology
Multiple Endocrine Neoplasia Type 2	RET	Endocrinology
N
Neonatal Diabetes Mellitus	GCK	Endocrinology
Neonatal Diabetes Mellitus	IPF1	Endocrinology
Neonatal Diabetes Mellitus	KCNJ11	Endocrinology
Nephrogenic Diabetes Insipidus	AQP2	Endocrinology
Nephrogenic Diabetes Insipidus	AVPR2	Endocrinology
Noonan Syndrome	PTPN11	Endocrinology
O
Osteogenesis Imperfecta (OI)	COL1A1	Endocrinology
Osteogenesis Imperfecta (OI)	COL1A2	Endocrinology
Osteoporosis-Pseudoglioma Syndrome (OPPG)	LRP5	Endocrinology
P
Pheochromocytoma	SDHB	Endocrinology
Pheochromocytoma	RET	Endocrinology
Pheochromocytoma	VHL	Endocrinology
Primary Adrenal Insufficiency	ABCD1	Endocrinology
Primary Adrenal Insufficiency	AIRE	Endocrinology
Primary Adrenal Insufficiency	CYP21A2	Endocrinology
Primary Adrenal Insufficiency	HSD3B2	Endocrinology
Primary Adrenal Insufficiency	NROB1 (DAX1)	Endocrinology
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
V
von Hippel Lindau Disease	VHL	Endocrinology
W
Wiskott-Aldrich Syndrome	WAS	Immunology
X-Linked
Adrenal Hypoplasia Congenita	NR0B1 (DAX1)	Endocrinology
Adrenoleukodystrophy	ABCD1	Endocrinology
X-linked Agammaglobulinemia (XLA)	BTK	Immunology
Hyper IgM Syndrome (HIGM1)	CD40LG	Immunology
Hypohydrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID)	IKBKG (NEMO)	Immunology
Nephrogenic Diabetes Insipidus	AVPR2	Endocrinology
X-linked Chronic Granulomatous Disease (XCGD)	CYBB	Immunology
Hypophosphatemic Rickets	PHEX	Endocrinology
Severe Combined Immunodeficiency (XSCID)	IL2RG	Immunology
Wiskott-Aldrich Syndrome (WAS)	WAS	Immunology
X-linked Lymphoproliferative Disease (XLP)	SH2D1A	Immunology