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Results: 1 to 20 of 39

Tests names and labsConditionsGenes, analytes, and microbesMethods

Epilepsy exome

Genetic Services Laboratory University of Chicago
United States
47125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Gastric Cancer Panel

Genetic Services Laboratory University of Chicago
United States
1019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early Infantile Epileptic Encephalopathy Panel

Genetic Services Laboratory University of Chicago
United States
47125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primordial Dwarfism Panel

Genetic Services Laboratory University of Chicago
United States
1832
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Breast & Ovarian Cancer, Familial (BRCA1 & BRCA2)

Center for Human Genetics, Inc
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lymphedema Sequencing Panel

Seattle Children's Hospital Genetics Laboratories Seattle Children's
United States
2724
  • C Sequence analysis of the entire coding region

Vascular Anomalies Expanded Sequencing Panel

Seattle Children's Hospital Genetics Laboratories Seattle Children's
United States
4744
  • C Sequence analysis of the entire coding region

Autoinflammatory Primary Immunodeficiency Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3118
  • C Sequence analysis of the entire coding region

Hemophagocytic Lymphohistiocytosis (HLH) Genetic Panel (36 genes and UNC13D inversion) (2 Day STAT TAT)

Machaon Diagnostics
United States
736
  • E Sequence analysis of select exons

IL28B Genotype

Mayo Clinic Laboratories Mayo Clinic
United States
61
  • T Targeted variant analysis

Genetic Test for Neurofibromatosis type 2

CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology
Portugal
11
  • C Sequence analysis of the entire coding region

Genetic Test for Charcot-Marie-Tooth Disease type 1A

CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology
Portugal
11
  • D Deletion/duplication analysis

Genetic Test for Huntington disease-like 2 - HDL2

CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology
Portugal
11
  • D Deletion/duplication analysis

McCune Albright Syndrome

Center for Genetics at Saint Francis Saint Francis Hospital
United States
11
  • T Targeted variant analysis

Alpha Globin Gene Sequencing

UCSF Molecular Diagnostics Laboratory University of California, San Francisco
United States
42
  • C Sequence analysis of the entire coding region

MLH1 Gene, Full Gene Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Goldberg schprintzen megacolon syndrome testing (KIAA1279)

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CHARGE syndrome testing (CHD7)

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Laminopathy testing (LMNA)

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genetic Test for Hereditary Neuropathy with Liability to Pressure Palsies

CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology
Portugal
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 39

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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