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Gasteroenterology, Hematology, Immunology, Metabolic, Nephrology, Oncology, Ophthalmology, Pulmonology, and Urology

Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.

 

Syndrome
Further Information
Gene (alias) (Syndrome)

 

Gasteroenterology

Chronic Pancreatitis

Indications and Benefits of Genetic TestingBardet-Biedl Syndrome Brochure
Disease Overview Bardet-Biedl Syndrome Overview
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.

CFTR
PRSS1
SPINK1

 

Hematology
Beta Thalassemia
Indications and Benefits of Genetic TestingRenal Cysts and Diabetes Syndrome Brochure
Disease Overview Renal Cysts and Diabetes Syndrome Overview
GeneReviews* Noonan Syndrome Gene Review
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
HBB

 

Immunology
   
Autoimmune Disease or Chronic Mucocutaneous Candidiasis (CMC)

Indications and Benefits of Genetic TestingTest Brochure
Disease Overview Disease Overview
Genetic Testing Explained Genetic Testing Explained
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.

AIRE
B-Cell Deficiencies

• Hyper IgM Syndrome (HIGM)
• X-linked Agammaglobulinemia (XLA)
• Common Variable Immunodeficiency (CVID)

For guidance in selection of B-cell deficiency gene tests, please refer to the "Diagnostic Algorithm" link.

Diagnostic Algorithm Diagnostic Algorithm
Indications and Benefits of Genetic TestingTest Brochure
Disease Review Disease Review
Genetic Testing Explained - HIGM Genetic Testing Explained - HIGM
Genetic Testing Explained - XLA Genetic Testing Explained - XLA
Genetic Testing Explained - CVID Genetic Testing Explained - CVID
GeneReviews (XLA)* Gene Review
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.

CD40LG (TNFSF5) (HIGM1)
AICDA (HIGM2)
CD40 (TNFRSF5) (HIGM3)
UNG (HIGM5)
BTK (XLA)
TNFRSF13B(TACI) (CVID)
Chronic Granulomatous Disease (CGD)
Indications and Benefits of Genetic TestingTest Brochure
Disease Overview Disease Overview
Genetic Testing Explained Genetic Testing Explained
Related Links Related Links
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
CYBB (X-CGD) 
Familial Mediterranean Fever
Indications and Benefits of Genetic TestingTest Brochure
Disease Overview Disease Overview
GeneReviews* Noonan Syndrome Gene Review
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
MEFV
Hyper IgE Syndrome (HIES)
Indications and Benefits of Genetic TestingTest Brochure
Disease Overview Disease Overview
Fact Sheet Genetic Testing Explained
Information for Patients and Caregivers Early-Onset Coronary Heart Patient Info
Genetic Testing Explained Genetic Testing Explained
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
STAT3 
Hypohydrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID)
Indications and Benefits of Genetic TestingTest Brochure
Disease Overview Disease Overview
Genetic Testing Explained Genetic Testing Explained
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
IKBKG (NEMO) (HED-ID)  
Interferon-γ Receptor Deficiency (IFNGRD)
(Familial Atypical Mycobacteriosis)

Indications and Benefits of Genetic TestingTest Brochure
Disease Overview Disease Review
Genetic Testing Explained Genetic Testing Explained
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.

IFNGR1 (IFNGRD)
IFNGR2 (IFNGRD)

Severe Combined Immunodeficiency (SCID)
including Omenn Syndrome (SCID/OS), RS-SCID (or SCIDA), and Zap-70 Deficiency

For guidance in selection of SCID gene tests, please refer to the "Diagnostic Algorithm" link.

Diagnostic Algorithm Diagnostic Algorithm
Indications and Benefits of Genetic TestingTest Brochure
Disease Review Disease Review
Genetic Testing Explained Genetic Testing Explained
GeneReviews* GeneReview
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
IL2RG (T-B+NK- SCID) (XSCID)
JAK3 (T-B+NK- SCID)
ADA (T-B-NK- SCID)
RAG1 [T-B-NK+ SCID or SCID/OS (T+)]
RAG2 [T-B-NK+ SCID or SCID/OS (T+)]
DCLRE1C (ARTEMIS) [T-B-NK+ SCID (RS-SCID or SCIDA) or SCID/OS (T+)]
IL7R [T-B+NK+ SCID or SCID/OS (T+)]
CD3D (T-B+NK+ SCID)
CD3E (T-B+NK+ SCID)
ZAP70 (T+(CD4+CD8-)B+NK+SCID; Zap-70 deficiency)
Wiskott-Aldrich Syndrome (WAS)
Indications and Benefits of Genetic TestingTest Brochure
Disease Overview Disease Overview
Genetic Testing Explained Genetic Testing Explained
GeneReviews* GeneReview
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
WAS (WAS)
X-linked Lymphoproliferative Disease (XLP)
Indications and Benefits of Genetic TestingTest Brochure
Disease Overview Disease Overview
Genetic Testing Explained Genetic Testing Explained
GeneReviews* GeneReview
Related Links Related Links
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
SH2D1A (XLP)

 

Metabolic
Galactosemia
Indications and Benefits of Genetic TestingRenal Cysts and Diabetes Syndrome Brochure
Disease Overview Renal Cysts and Diabetes Syndrome Overview
GeneReviews* Noonan Syndrome Gene Review
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
GALT
Wilson's Disease
Indications and Benefits of Genetic TestingNephrology: von Hippel-Landau Disease Brochure
Disease Overview Nephrology: von Hippel-Landau Disease Overview
GeneReviews* Nephrology: von Hippel-Landau Disease Gene Review
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
ATP7B

 

Nephrology
Renal Cell Carcinoma
Indications and Benefits of Genetic TestingNephrology: von Hippel-Landau Disease Brochure
Disease Overview Nephrology: von Hippel-Landau Disease Overview
Genetic Testing Explained Genetic Testing Explained
GeneReviews* Nephrology: von Hippel-Landau Disease Gene Review
Family Testing Info Family Testing Info
Related Links Related Links
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
VHL

 

Oncology
Hereditary Nonpolyposis Colorectal Cancer (HNPCC)
Indications and Benefits of Genetic TestingRenal Cysts and Diabetes Syndrome Brochure
Disease Overview Renal Cysts and Diabetes Syndrome Overview
GeneReviews* Noonan Syndrome Gene Review
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.

MLH1
MSH2
MSH6

PMS2

 

Ophthalmology
Retinal Degeneration
Indications and Benefits of Genetic TestingBardet-Biedl Syndrome Brochure
Disease Overview Bardet-Biedl Syndrome Overview
Genetic Testing Explained Genetic Testing Explained
GeneReviews* Bardet-Biedl Syndrome Gene Reviews
Related Links Related Links
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
BBS1
BBS2
Retinal Hemangioblastoma
Indications and Benefits of Genetic TestingOphthalmology: von Hippel-Landau Disease Brochure
Disease Overview Ophthalmology: von Hippel-Landau Disease Overview
Genetic Testing Explained Genetic Testing Explained
GeneReviews* Ophthalmology: von Hippel-Landau Disease Gene Review
Information for Patients and Caregivers Ophthalmology: von Hippel-Lindau Disease Patient Info
Family Testing Info Family Testing Info
Related Links Related Links
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
VHL

 

Pulmonology
Cystic Fibrosis
Indications and Benefits of Genetic TestingCystic Fibrosis Brochure
Disease Overview Cystic Overview
GeneReviews* Cystic Gene Reviews
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
CFTR

 

Urology
Congenital Bilateral Absence of the Vas Deferens
Indications and Benefits of Genetic TestingCongenital Absence of Vas Deferens Brochure
Disease Overview Congenital Absence of Vas Deferens Overview
GeneReviews* Bardet-Biedl Syndrome Gene Reviews
Testing for these indications now occurs at a different LabCorp site.  Please contact the testing site’s client services at 800-345-4363 to order these tests.
CFTR
 

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

 

 

 

 
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