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Results: 1 to 20 of 220

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hyperinsulinism Panel

Genetic Services Laboratory University of Chicago
United States
1324
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

PMM2 Gene Glycosylation disorder type 1A NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Ataxia Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1199
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Nephrology Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1299
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FSGS/Nephrotic Syndrome Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2556
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cardiomyopathies General Panel

Health in Code
Spain
1173
  • C Sequence analysis of the entire coding region

Hypertrophic cardiomyopathy extended panel

Health in Code
Spain
1104
  • C Sequence analysis of the entire coding region

Arrhythmia General Panel

Health in Code
Spain
1218
  • C Sequence analysis of the entire coding region

Skeletal myopathy Panel

Health in Code
Spain
157
  • C Sequence analysis of the entire coding region

Cardiovascular Diseases_General Panel

Health in Code
Spain
1380
  • C Sequence analysis of the entire coding region

Hypertrophic Cardiomyopathy Extended Panel

Health in Code
Spain
190
  • C Sequence analysis of the entire coding region

Cardiomyopathies Panel

Health in Code
Spain
1149
  • C Sequence analysis of the entire coding region

Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease

Health in Code
Spain
1141
  • C Sequence analysis of the entire coding region

Skeletal Myopathy Panel

Health in Code
Spain
146
  • C Sequence analysis of the entire coding region

Inherited Cardiovascular Diseases and Sudden Death Panel

Health in Code
Spain
1213
  • C Sequence analysis of the entire coding region

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PMM2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 220

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.