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Cardiology, Nephrology, Ophthalmology, Pulmonology, Urology and Gasteroenterology

 

Syndrome
Further Information
Gene (alias) (Syndrome)

 

Cardiology
Arrthythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C)
DSC2
DSG2
DSP
PKP2
TMEM43
Atrial Septal Defect with Atrioventricular Block (ASD-AVB)
NKX2-5
Dilated Cardiomyopathy (DCM)
ACTC
LMNA
MYH7
MYBPC3
TNNI3 (cTnI)
TNNT2 (cTnT)
TPM1
Early-Onset Coronary Heart Disease
LDLR
APOB
Familial Aortopathy
See Disease Overview
Familial Arrhythmia
See Disease Overview
Familial Cardiomyopathy
See Disease Overview
Hypertrophic Cardiomyopathy (HCM)
ACTC
LAMP2
MYBPC3
MYH7
MYL2
MYL3
PRKAG2
TNNI3 (cTnI)
TNNT2 (cTnT)
TPM1
Loeys-Dietz Syndrome (LDS)
TGFBR1
TGFBR2
Marfan Syndrome (MFS)
FBN1
Pulmonic Stenosis
PTPN11
Thoracic Aortic Aneurysms and Dissections (TAAD)
FBN1
TGFBR1
TGFBR2

 

Nephrology
Renal Cysts and Diabetes Syndrome (RCAD)
TCF2 (HNF1B)
Renal Cell Carcinoma
VHL

 

Ophthalmology
Retinal Degeneration
BBS1
BBS2
Retinal Hemangioblastoma
VHL

 

Gasteroenterology
Chronic Pancreatitis

* Indications and CPT Codes Bardet-Biedl Syndrome Catalog
* Benefits of Genetic Testing Bardet-Biedl Syndrome Brochure
* Disease Overview Bardet-Biedl Syndrome Overview
Genetic Testing Explained Genetic Testing Explained
Ordering (US) Bardet-Biedl Syndrome Ordering USA
Ordering (International) Bardet-Biedl Syndrome Ordering International

* Coming soon. Please contact client services for more information (1-866-647-0735).

CFTR
PRSS1
SPINK1

 

 

Pulmonology
Cystic Fibrosis
CFTR

 

Urology
Congenital Bilateral Absence of the Vas Deferens
CFTR
 

*GeneReviews are expert-authored disease reviews made available online by GeneTests.org.

 

Additional Information for Ordering:

 

 

 
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