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Results: 1 to 20 of 89

Tests names and labsConditionsGenes, analytes, and microbesMethods

Koolen-De Vries syndrome (sequence analysis of KANSL1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies

Mayo Clinic Laboratories Mayo Clinic
United States
3940
  • C Sequence analysis of the entire coding region

Tempus xT

Tempus AI - RTP
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

ALDH3A2 Gene Sjogren-Larsson syndrome NGS Genetic DNA Test

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

SEC23B Gene Anemia dyserythropoietic type 2 NGS Genetic DNA Test

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

Congenital Dyserythropoietic Anemia Panel, Next-Generation Sequencing

Mayo Clinic Laboratories Mayo Clinic
United States
610
  • C Sequence analysis of the entire coding region

Tempus xT

Tempus AI - CHI
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

NGS Panel for Congenital Dyserythropoietic Anemia

BloodGenetics
Spain
912
  • C Sequence analysis of the entire coding region

Hyperferritinemia Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
1515
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • 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

SEC23B - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

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

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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 Inborn Errors of Immunity and Cytopenias Panel

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

Invitae Supplemental Metabolic Newborn Screening Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
253189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hereditary Hemolytic Anemia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
7439
  • D Deletion/duplication analysis

Congenital Disorders of Glycosylation Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Dyserythropoietic Anemia (CDA) Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
127
  • D Deletion/duplication analysis

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 89

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.