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Results: 61 to 80 of 81

Tests names and labsConditionsGenes, analytes, and microbesMethods

Neuromuscular disorders - different panels

Institute of Human Genetics Cologne University
Germany
16474
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency NGS Panel

Fulgent Genetics
United States
33090
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
72536
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vici Syndrome , Sequencing EPG5 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency Panel

Blueprint Genetics
Finland
179
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Immunodeficiency Panel

Blueprint Genetics
Finland
2275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cardiomyopathy Panel

Blueprint Genetics
Finland
6155
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cardiology Panel

Blueprint Genetics
Finland
12185
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypertrophic Cardiomyopathy (HCM) Panel

Blueprint Genetics
Finland
238
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dilated Cardiomyopathy (DCM) Panel

Blueprint Genetics
Finland
170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Syndromal Diseases - panels

MGZ Medical Genetics Center
Germany
14342
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental Retardation and Dysmorphology - panels

MGZ Medical Genetics Center
Germany
15343
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neurogenetic Disorders - panels

MGZ Medical Genetics Center
Germany
14597
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Eye Diseases - panels

MGZ Medical Genetics Center
Germany
6167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EPG5 Single Gene

Fulgent Genetics
United States
581
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genetic disorders with abnormal pigmentation Panel

CeGaT GmbH
Germany
2932
  • C Sequence analysis of the entire coding region

EPG5 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cataract

MGZ Medical Genetics Center
Germany
265
  • C Sequence analysis of the entire coding region

Results: 61 to 80 of 81

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.