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Results: 1 to 20 of 117

Tests names and labsConditionsGenes, analytes, and microbesMethods

PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic DNA Test

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

Rhabdo/Metabolic Myopathy Panel

Mayo Clinic Laboratories Mayo Clinic
United States
283
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS Panel for Congenital and Acquired Sideroblastic Anemia

BloodGenetics
Spain
1817
  • C Sequence analysis of the entire coding region

HemeZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
10796
  • C Sequence analysis of the entire coding region

Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis

Variantyx, Inc.
United States
1335
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Nuclear Mitochondrial Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1221
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Combined mtDNA+Nuclear Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
12221
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • E Sequence analysis of select exons

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • 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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Rhabdomyolysis and Metabolic Myopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
202128
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Invitae Nuclear Mitochondrial Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Iron Related Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3927
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
249155
  • C Sequence analysis of the entire coding region

Mitochondrial Disorders Panel (Nuclear Genes Only)

PreventionGenetics, part of Exact Sciences
United States
292253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Inherited Bone Marrow Failure Panel

PreventionGenetics, part of Exact Sciences
United States
266186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 117

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.