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Results: 21 to 40 of 53

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Metabolic Newborn Screening Confirmation Panel

Invitae
United States
201158
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Elevated C5-OH Panel

Invitae
United States
1715
  • D Deletion/duplication analysis

Invitae Organic Acidemias Panel

Invitae
United States
10897
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel

Invitae
United States
13454
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardiomyopathy Comprehensive Panel

Invitae
United States
19882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel

Invitae
United States
239100
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Optic Atrophy and Neuropathy Panel

PreventionGenetics, part of Exact Sciences
United States
9668
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Dilatative Cardiomyopathy Panel (DCM Panel)

Labor Dr. Wisplinghoff
Germany
4343
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
376317
  • C Sequence analysis of the entire coding region

Hereditary ataxias. NGS panel of 139 genes.

Genologica Medica
Spain
220139
  • C Sequence analysis of the entire coding region

Ataxia panel. NGS panel of 157 genes.

Genologica Medica
Spain
247156
  • C Sequence analysis of the entire coding region

Mitochondrial genome sequencing

Molecular Vision Laboratory
United States
526339
  • C Sequence analysis of the entire coding region

DNAJC19 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

DNAJC19 Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Genetics
United States
11
  • T Targeted variant analysis

DNAJC19 Sequence Analysis (Prenatal Sequence Analysis)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

3-Methylglutaconic aciduria: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
88
  • C Sequence analysis of the entire coding region

Early-Onset Ataxia NGS Panel

Fulgent Genetics
United States
505132
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cardiomyopathy NGS Panel

Fulgent Genetics
United States
450128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Oxidative Phosphorylation Disorders NGS Panel

Fulgent Genetics
United States
416235
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 53

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.